Gene Frequency

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  Subject Areas on Research

  • 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. 
  • 29 mammalian genomes reveal novel exaptations of mobile elements for likely regulatory functions in the human genome. 
  • A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set. 
  • A Common Variant in MIR182 Is Associated With Primary Open-Angle Glaucoma in the NEIGHBORHOOD Consortium. 
  • A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk. 
  • A Missense Variant in PTPN22 is a Risk Factor for Drug-induced Liver Injury. 
  • A PCR-RFLP typing method for adhesion molecule gene polymorphisms and allele frequencies in a normal UK population. 
  • A SAGE study of apolipoprotein E3/3, E3/4 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease. 
  • A Segregating Inversion Generates Fitness Variation in Yellow Monkeyflower (Mimulus guttatus). 
  • A case-only approach for assessing gene by sex interaction in human longevity. 
  • A common BIM deletion polymorphism mediates intrinsic resistance and inferior responses to tyrosine kinase inhibitors in cancer. 
  • A comparison of major histocompatibility complex SNPs in Han Chinese residing in Taiwan and Caucasians. 
  • A compound nucleotide repeat in the neurofibromatosis (NF1) gene. 
  • A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations. 
  • A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations. 
  • A functional NQO1 609C>T polymorphism and risk of gastrointestinal cancers: a meta-analysis. 
  • A genetic variant within MDM4 3'UTR miRNA binding site is associated with HPV16-positive tumors and survival of oropharyngeal cancer. 
  • A genome-wide analysis of putative functional and exonic variation associated with extremely high intelligence 
  • A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. 
  • A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing. 
  • A genome-wide association study of myasthenia gravis. 
  • A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium. 
  • A genome-wide study of preferential amplification/hybridization in microarray-based pooled DNA experiments. 
  • A genome-wide survey of copy number variations in Han Chinese residing in Taiwan. 
  • A haplotype map of the human genome. 
  • A high frequency of activating extracellular domain ERBB2 (HER2) mutation in micropapillary urothelial carcinoma. 
  • A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response. 
  • A highly polymorphic cDNA probe in the NF1 gene. 
  • A lack of genetic linkage of renin gene restriction fragment length polymorphisms with human hypertension. 
  • A large-scale survey of genetic copy number variations among Han Chinese residing in Taiwan. 
  • A low-frequency variant at 8q24.21 is strongly associated with risk of oligodendroglial tumors and astrocytomas with IDH1 or IDH2 mutation. 
  • A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry. 
  • A metabolic signature of colon cancer initiating cells. 
  • A new analysis tool for individual-level allele frequency for genomic studies. 
  • A novel functional VKORC1 promoter polymorphism is associated with inter-individual and inter-ethnic differences in warfarin sensitivity. 
  • A promoter polymorphism (-77T>C) of DNA repair gene XRCC1 is associated with risk of lung cancer in relation to tobacco smoking. 
  • A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. 
  • A regression-based association test for case-control studies that uses inferred ancestral haplotype similarity. 
  • A regulatory variant of the human tryptophan hydroxylase-2 gene biases amygdala reactivity. 
  • A remark about CYP1A1 Thr461Asn genotype frequencies in a recent endometrial cancer case-control study. 
  • A reversible color polyphenism in American peppered moth (Biston betularia cognataria) caterpillars. 
  • A role of matrix metalloproteinase-8 in atherosclerosis. 
  • A saturated map of common genetic variants associated with human height. 
  • A second-generation genomic screen for multiple sclerosis. 
  • A simple and improved correction for population stratification in case-control studies. 
  • A sparse transmission disequilibrium test for haplotypes based on Bradley-Terry graphs. 
  • A variable age of onset segregation model for linkage analysis, with correction for ascertainment, applied to glioma. 
  • AGTR1 gene variation: association with depression and frontotemporal morphology. 
  • ALOX5 polymorphism associates with increased leukotriene production and reduced lung function and asthma control in children with poorly controlled asthma. 
  • APOE/TOMM40 genetic loci, white matter hyperintensities, and cerebral microbleeds. 
  • APOE2 allele increased in tardive dyskinesia. 
  • APOL1 kidney disease risk variants cause cytotoxicity by depleting cellular potassium and inducing stress-activated protein kinases. 
  • APOL1 risk alleles among individuals with CKD in Northern Tanzania: A pilot study. 
  • AQP1 and SLC4A10 as candidate genes for primary open-angle glaucoma. 
  • ARHI is the center of allelic deletion on chromosome 1p31 in ovarian and breast cancers. 
  • Aberrant allele frequencies of the SNPs located in microRNA target sites are potentially associated with human cancers. 
  • Absence of putative artemisinin resistance mutations among Plasmodium falciparum in Sub-Saharan Africa: a molecular epidemiologic study. 
  • Abundance and diversity of Schizophyllum commune spore clouds in the Caribbean detected by selective sampling. 
  • Abundant raw material for cis-regulatory evolution in humans. 
  • Accounting for linkage in family-based tests of association with missing parental genotypes. 
  • Accuracy of Inferred APOE Genotypes for a Range of Genotyping Arrays and Imputation Reference Panels. 
  • Activating mutation in MET oncogene in familial colorectal cancer. 
  • Adaptive evolution and fixation of drug-resistant Plasmodium falciparum genotypes in pregnancy-associated malaria: 9-year results from the QuEERPAM study. 
  • Additional glomangioma families link to chromosome 1p: no evidence for genetic heterogeneity. 
  • African-American HLA class II allele and haplotype diversity. 
  • African-American HLA class II allele and haplotype diversity. 
  • African-American TOMM40'523-APOE haplotypes are admixture of West African and Caucasian alleles. 
  • Age-related changes of the 3'APOB-VNTR genotype pool in ageing cohorts. 
  • Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. 
  • Allele frequency spectra in structured populations: Novel-allele probabilities under the labelled coalescent. 
  • Alleles associated with physical activity levels are estimated to be older than anatomically modern humans. 
  • Allelic differences in the brain-derived neurotrophic factor Val66Met polymorphism in late-life depression. 
  • Allelic diversity in the TGFB1 regulatory region: characterization of novel functional single nucleotide polymorphisms. 
  • Alpha₁-antitrypsin deficiency-related alleles Z and S and the risk of Wegener's granulomatosis. 
  • Alzheimer's disease susceptibility genes APOE and TOMM40, and hippocampal volumes in the Lothian birth cohort 1936. 
  • An Ehlers-Danlos syndrome type VIA patient with cystic malformations of the meninges. 
  • An Empirical Comparison of Joint and Stratified Frameworks for Studying G × E Interactions: Systolic Blood Pressure and Smoking in the CHARGE Gene-Lifestyle Interactions Working Group. 
  • An IL28B polymorphism determines treatment response of hepatitis C virus genotype 2 or 3 patients who do not achieve a rapid virologic response. 
  • An allele of HRAS1 3'variable number of tandem repeats is a frailty allele: implication for an evolutionarily-conserved pathway involved in longevity. 
  • An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease. 
  • An exclusion map for facioscapulohumeral (Landouzy-Déjérine) disease. 
  • An miR-502-binding site single-nucleotide polymorphism in the 3'-untranslated region of the SET8 gene is associated with early age of breast cancer onset. 
  • Analysis of HLA-DM polymorphism in juvenile dermatomyositis (JDM) patients. 
  • Analysis of a large pedigree with elliptocytosis, multiple lipomatosis, and biological false-positive serological test for syphilis. 
  • Apolipoprotein E alleles and sensorineural hearing loss. 
  • Apolipoprotein E and Alzheimer's disease. 
  • Apolipoprotein E and brain injury: implications for children. 
  • Apolipoprotein E controls the risk and age at onset of Parkinson disease. 
  • Apolipoprotein E epsilon 4 allele distributions in late-onset Alzheimer's disease and in other amyloid-forming diseases. 
  • Apolipoprotein E epsilon 4. 
  • Apolipoprotein E gene and retinal microvascular signs in older people: the Cardiovascular Health Study. 
  • Apolipoprotein E genotype and mortality: findings from the Cache County Study. 
  • Apolipoprotein E genotype determines survival in the oldest old (85 years or older) who have good cognition. 
  • Apolipoprotein E in Creutzfeldt-Jacob disease. 
  • Apolipoprotein E-epsilon 4 frequency in geriatric depression. 
  • Apolipoprotein E4 polymorphism as a genetic predisposition to delirium in critically ill patients. 
  • Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. 
  • Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data. 
  • Are APOE ɛ genotype and TOMM40 poly-T repeat length associations with cognitive ageing mediated by brain white matter tract integrity? 
  • Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with risk of clear cell ovarian cancer. 
  • Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. 
  • Association between APOE epsilon4 allele and vascular dementia: The Cache County study. 
  • Association between C reactive protein and coronary heart disease: mendelian randomisation analysis based on individual participant data. 
  • Association between CASP8 and CASP10 polymorphisms and toxicity outcomes with platinum-based chemotherapy in Chinese patients with non-small cell lung cancer. 
  • Association between ICAM-1 Gly-Arg polymorphism and renal parenchymal scarring following childhood urinary tract infection. 
  • Association between bleomycin hydrolase and Alzheimer's disease in caucasians. 
  • Association between chromosome 2p16.3 variants and glaucoma in populations of African descent. 
  • Association between genetic variation at the porphobilinogen deaminase gene and schizophrenia. 
  • Association between p21 Ser31Arg polymorphism and cancer risk: a meta-analysis. 
  • Association between polymorphisms in the GSTA4 gene and risk of lung cancer: a case-control study in a Southeastern Chinese population. 
  • Association between treatment-emergent suicidal ideation with citalopram and polymorphisms near cyclic adenosine monophosphate response element binding protein in the STAR*D study. 
  • Association of CARD8 Activating Polymorphism With Bone Erosion in Cholesteatoma Patients. 
  • Association of IL6ST (gp130) Polymorphism with Functional Outcome Following Spontaneous Intracerebral Hemorrhage. 
  • Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease. 
  • Association of circadian genes with diurnal blood pressure changes and non-dipper essential hypertension: a genetic association with young-onset hypertension. 
  • Association of endothelial nitric oxide synthase gene G894T polymorphism with essential hypertension in an adult Pakistani Pathan population. 
  • Association of estrogen receptor β polymorphisms with posterior tibial tendon dysfunction. 
  • Association of exome sequences with plasma C-reactive protein levels in >9000 participants. 
  • Association of gene variants of the renin-angiotensin system with accelerated hippocampal volume loss and cognitive decline in old age. 
  • Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis. 
  • Association of hsp70-2 and hsp-hom gene polymorphisms with risk of acute high-altitude illness in a Chinese population. 
  • Association of levels of fasting glucose and insulin with rare variants at the chromosome 11p11.2-MADD locus: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. 
  • Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks. 
  • Association of maternal IL-1 receptor antagonist intron 2 gene polymorphism and preterm birth. 
  • Association of mtDNA haplogroup F with healthy longevity in the female Chuang population, China. 
  • Association of the CCR5 gene with juvenile idiopathic arthritis. 
  • Association of the IL2RA/CD25 gene with juvenile idiopathic arthritis. 
  • Association study of genetic polymorphisms of SLC2A10 gene and type 2 diabetes in the Taiwanese population. 
  • Associations Between Catecholaminergic and Serotonergic Genes and Persistent Arm Pain Severity Following Breast Cancer Surgery. 
  • Associations between HLA class I alleles and the prevalence of nasopharyngeal carcinoma (NPC) among Tunisians. 
  • Associations between serotonin transporter gene promoter region (5-HTTLPR) polymorphism and gaze bias for emotional information. 
  • Associations of genotypes and haplotypes of IL-17 with risk of gastric cancer in an eastern Chinese population. 
  • Attempted replication of 50 reported asthma risk genes identifies a SNP in RAD50 as associated with childhood atopic asthma. 
  • Autism and the serotonin transporter: the long and short of it. 
  • BDNF Val66Met genotype and 6-month remission rates in late-life depression. 
  • Balancing selection and trans-specific polymorphisms. 
  • Balancing selection on a floral polymorphism. 
  • Bayesian estimation of genetic regulatory effects in high-throughput reporter assays. 
  • Best practices and joint calling of the HumanExome BeadChip: the CHARGE Consortium. 
  • Bethlem myopathy is not allelic to limb-girdle muscular dystrophy type 1A. 
  • Bipolar disorder, brain-derived neurotrophic factor (BDNF) Val66Met polymorphism and brain morphology. 
  • CHRM2, parental monitoring, and adolescent externalizing behavior: evidence for gene-environment interaction. 
  • CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease. 
  • CRHBP polymorphisms predict chronic pain development following motor vehicle collision. 
  • CTLA-4 gene polymorphisms and systemic lupus erythematosus in a population-based study of whites and African-Americans in the southeastern United States. 
  • CYP2C19 and PON1 polymorphisms regulating clopidogrel bioactivation in Chinese, Malay and Indian subjects. 
  • CYP2C19 variation and citalopram response. 
  • Characterization of BRCA1 and BRCA2 mutations in a large United States sample. 
  • Characterization of serum proteins associated with IL28B genotype among patients with chronic hepatitis C. 
  • Characterization of the poly-T variant in the TOMM40 gene in diverse populations. 
  • Child μ-opioid receptor gene variant influences parent-child relations. 
  • Chromosome breakage in Drosophila melanogaster induced by a monofunctional alkylating agent (EMS). 
  • Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. 
  • Clinical outcome and gene- and microRNA-expression profiling according to the Wilms tumor 1 (WT1) single nucleotide polymorphism rs16754 in adult de novo cytogenetically normal acute myeloid leukemia: a Cancer and Leukemia Group B study. 
  • Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish. 
  • Combined effects of E2F1 and E2F2 polymorphisms on risk and early onset of squamous cell carcinoma of the head and neck. 
  • Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis. 
  • Common genetic variation in the 3'-BCL11B gene desert is associated with carotid-femoral pulse wave velocity and excess cardiovascular disease risk: the AortaGen Consortium. 
  • Common minor histocompatibility antigen discovery based upon patient clinical outcomes and genomic data. 
  • Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. 
  • Common variants in Mendelian kidney disease genes and their association with renal function. 
  • Common variants in the periostin gene influence development of atherosclerosis in young persons. 
  • Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma. 
  • Comparative phenotypic and CARD15 mutational analysis among African American, Hispanic, and White children with Crohn's disease. 
  • Complement factor H variant increases the risk of age-related macular degeneration. 
  • Complex genetic disease: can genetic strategies in Alzheimer's disease and new genetic mechanisms be applied to epilepsy? 
  • Complex relationship between Parkin mutations and Parkinson disease. 
  • Contrasting quaternary histories in an ecologically divergent sister pair of low-dispersing intertidal fish (Xiphister) revealed by multilocus DNA analysis. 
  • Convergent adaptation of human lactase persistence in Africa and Europe. 
  • Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples. 
  • Cost-effectiveness of HLA-B*1502 genotyping in adult patients with newly diagnosed epilepsy in Singapore. 
  • Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression. 
  • Cross-species microsatellite markers for elucidating population genetic structure in Arabidopsis and Arabis (Brassicaeae). 
  • Cyclooxygenase 2 polymorphism (Val511Ala), nonsteroidal anti-inflammatory drug use and breast cancer in African American women. 
  • Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations. 
  • Cystic fibrosis in Jews: frequency and mutation distribution. 
  • Cytochrome P450 1A1 (CYP1A1) gene polymorphisms and cervical cancer risk: a meta-analysis. 
  • Cytokine polymorphic analyses indicate ethnic differences in the allelic distribution of interleukin-2 and interleukin-6. 
  • DNA mismatch repair network gene polymorphism as a susceptibility factor for pancreatic cancer. 
  • DRD4 VNTR polymorphism is associated with transient fMRI-BOLD responses to smoking cues. 
  • De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. 
  • Deep Sequencing of Three Loci Implicated in Large-Scale Genome-Wide Association Study Smoking Meta-Analyses. 
  • Deep-coverage whole genome sequences and blood lipids among 16,324 individuals. 
  • Definition of a functional single nucleotide polymorphism in the cell migration inhibitory gene MIIP that affects the risk of breast cancer. 
  • Dependence of paracentric inversion rate on tract length. 
  • Detailed analysis of allelic variation in the ABCA4 gene in age-related maculopathy. 
  • Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8. 
  • Determinants of effective population size for loci with different modes of inheritance. 
  • Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation. 
  • Differences in crossover frequency and distribution among three sibling species of Drosophila. 
  • Dinucleotide repeat polymorphism at the human erythropoietin receptor locus (EPOR) at 19p13. 
  • Dissecting the gene dose-effects of the APOE ε4 and ε2 alleles on hippocampal volumes in aging and Alzheimer's disease. 
  • Distribution and medical impact of loss-of-function variants in the Finnish founder population. 
  • Distribution of the FMR1 gene in females by race/ethnicity: women with diminished ovarian reserve versus women with normal fertility (SWAN study). 
  • Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program. 
  • Drawing inferences about the coancestry coefficient. 
  • Effect of polymorphisms in XPD on clinical outcomes of platinum-based chemotherapy for Chinese non-small cell lung cancer patients. 
  • Effects of 5HTTLPR on cardiovascular response to an emotional stressor. 
  • Effects of inversions on within- and between-species recombination and divergence. 
  • Effects of source of DNA on genotyping success rates and allele percentages in the Preschoolers with Attention-Deficit/Hyperactivity Disorder Treatment Study (PATS). 
  • Effects of variation at the flower-colour A locus on mating system parameters in Ipomoea purpurea. 
  • Efficient estimation of grouped survival models. 
  • Epidemiology of 21-hydroxylase deficiency in Singapore. 
  • Evaluation of SLC11A1 as an inflammatory bowel disease candidate gene. 
  • Evidence for genetic drift in endosymbionts (Buchnera): analyses of protein-coding genes. 
  • Evidence for selection at multiple allozyme loci across a mussel hybrid zone. 
  • Evidence of viral adaptation to HLA class I-restricted immune pressure in chronic hepatitis C virus infection. 
  • Evolution of the gene network underlying wing polyphenism in ants. 
  • Evolutionary adaptation of the amino acid and codon usage of the mosquito sodium channel following insecticide selection in the field mosquitoes. 
  • Exact moment calculations for genetic models with migration, mutation, and drift. 
  • Examination of Potential Modifiers of the Association of APOL1 Alleles with CKD Progression. 
  • Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits. 
  • Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease. 
  • Exome sequencing identifies distinct mutational patterns in liver fluke-related and non-infection-related bile duct cancers. 
  • Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma. 
  • Exploration of a hypothesized independent association of a common 9p21.3 gene variant and ischemic stroke in patients with and without angiographic coronary artery disease. 
  • Exploring the genetic basis of chronic periodontitis: a genome-wide association study. 
  • FAS and FASLG genetic variants and risk for second primary malignancy in patients with squamous cell carcinoma of the head and neck. 
  • FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization. 
  • FLT3 internal tandem duplication mutations are rare in agnogenic myeloid metaplasia. 
  • FOXP2 variation in great ape populations offers insight into the evolution of communication skills. 
  • FTO genetic variants, dietary intake and body mass index: insights from 177,330 individuals. 
  • FTO variants are associated with obesity in the Chinese and Malay populations in Singapore. 
  • Familial chordoma, a tumor of notochordal remnants, is linked to chromosome 7q33. 
  • Family-based association tests for rare variants with censored traits. 
  • Fast and robust association tests for untyped SNPs in case-control studies. 
  • Feasibility of a bilateral 4000-6000 Hz notch as a phenotype for genetic association analysis. 
  • Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis. 
  • Four polymorphisms in cytochrome P450 1A1 (CYP1A1) gene and breast cancer risk: a meta-analysis. 
  • Functional genetic variants of XRCC4 and ERCC1 predict survival of gastric cancer patients treated with chemotherapy by regulating the gene expression. 
  • Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. 
  • Functional polymorphisms of CHRNA3 predict risks of chronic obstructive pulmonary disease and lung cancer in Chinese. 
  • Functional single nucleotide polymorphisms of the RASSF3 gene and susceptibility to squamous cell carcinoma of the head and neck. 
  • Further exclusion of FSHD1B from the telomeric region of 10q. 
  • GWAS in childhood acute lymphoblastic leukemia reveals novel genetic associations at chromosomes 17q12 and 8q24.21. 
  • GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium. 
  • Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. 
  • Gene flow between Drosophila pseudoobscura and D. persimilis. 
  • Gene flow, divergent selection and resistance to introgression in two species of morning glories (Ipomoea). 
  • Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations. 
  • Genealogical structure among alleles regulating self-incompatibility in natural populations of flowering plants. 
  • Genes, demography, and life span: the contribution of demographic data in genetic studies on aging and longevity. 
  • Genetic Architecture of Primary Open-Angle Glaucoma in Individuals of African Descent: The African Descent and Glaucoma Evaluation Study III. 
  • Genetic analysis workshop IV: Huntington disease linkage analysis summary. 
  • Genetic architecture of gene expression traits across diverse populations. 
  • Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort. 
  • Genetic determinants of age-related macular degeneration in diverse populations from the PAGE study. 
  • Genetic diversity in the Mycobacterium tuberculosis complex based on variable numbers of tandem DNA repeats. 
  • Genetic effective size of a wild primate population: influence of current and historical demography. 
  • Genetic effects in the leukotriene biosynthesis pathway and association with atherosclerosis. 
  • Genetic factors influencing prostate cancer risk in Norwegian men. 
  • Genetic heterogeneity in MCAD deficiency: frequency of K329E allele and identification of three additional mutant alleles. 
  • Genetic linkage studies in Alzheimer's disease families. 
  • Genetic markers of suicidal ideation emerging during citalopram treatment of major depression. 
  • Genetic polymorphisms associated with the risk of concussion in 1056 college athletes: a multicentre prospective cohort study. 
  • Genetic polymorphisms in DNA base-excision repair genes ADPRT, XRCC1, and APE1 and the risk of squamous cell carcinoma of the head and neck. 
  • Genetic polymorphisms in tumor necrosis factor (TNF)-alpha and TNF-beta in a population-based study of systemic lupus erythematosus: associations and interaction with the interleukin-1alpha-889 C/T polymorphism. 
  • Genetic polymorphisms of metabolic enzymes and the pharmacokinetics of indapamide in Taiwanese subjects. 
  • Genetic polymorphisms of p21 are associated with risk of squamous cell carcinoma of the head and neck. 
  • Genetic polymorphisms of the N-acetyltransferase genes and risk of Parkinson's disease. 
  • Genetic predisposition of life-threatening antiepileptic-induced skin reactions. 
  • Genetic regulation of alpha-synuclein mRNA expression in various human brain tissues. 
  • Genetic signatures of exceptional longevity in humans. 
  • Genetic studies: look no further than your own backyard. 
  • Genetic trade-offs and conditional neutrality contribute to local adaptation. 
  • Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus. 
  • Genetic variants associated with sepsis. 
  • Genetic variants in the TEP1 gene are associated with prostate cancer risk and recurrence. 
  • Genetic variants in the metzincin metallopeptidase family genes predict melanoma survival. 
  • Genetic variants of JNK and p38α pathways and risk of non-small cell lung cancer in an Eastern Chinese population. 
  • Genetic variants of p21 and p27 and pancreatic cancer risk in non-Hispanic Whites: a case-control study. 
  • Genetic variants of the LIN28B gene predict severe radiation pneumonitis in patients with non-small cell lung cancer treated with definitive radiation therapy. 
  • Genetic variants primarily associated with type 2 diabetes are related to coronary artery disease risk. 
  • Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance. 
  • Genetic variation in adiponectin (ADIPOQ) and the type 1 receptor (ADIPOR1), obesity and prostate cancer in African Americans. 
  • Genetic variation in components of dopamine neurotransmission impacts ventral striatal reactivity associated with impulsivity. 
  • Genetic variations in the homologous recombination repair pathway genes modify risk of glioma. 
  • Genetics of Human Longevity From Incomplete Data: New Findings From the Long Life Family Study. 
  • Genetics. FDA races in wrong direction. 
  • Genome-Wide Analysis of Sex Disparities in the Genetic Architecture of Lung and Colorectal Cancers. 
  • Genome-Wide Association Study Links Receptor Tyrosine Kinase Inhibitor Sprouty 2 to Thrombocytopenia after Coronary Artery Bypass Surgery. 
  • Genome-Wide Interactions with Dairy Intake for Body Mass Index in Adults of European Descent. 
  • Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans. 
  • Genome-wide association for smoking cessation success: participants in a trial with adjunctive denicotinized cigarettes. 
  • Genome-wide association identifies diverse causes of common variable immunodeficiency. 
  • Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21. 
  • Genome-wide association of white blood cell counts in Hispanic/Latino Americans: the Hispanic Community Health Study/Study of Latinos. 
  • Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation. 
  • Genome-wide association study identifies a novel locus for cannabis dependence. 
  • Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population. 
  • Genome-wide association study validation identifies novel loci for atherosclerotic cardiovascular disease. 
  • Genome-wide detection and characterization of positive selection in human populations. 
  • Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies. 
  • Genome-wide study of methotrexate clearance replicates SLCO1B1. 
  • Genomewide investigation of adaptation to harmful algal blooms in common bottlenose dolphins (Tursiops truncatus). 
  • Genomic correlates of variability in immune response to an oral cholera vaccine. 
  • Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4. 
  • Germ-line mutations of the macrophage scavenger receptor 1 gene: association with prostate cancer risk in African-American men. 
  • Germline HOXB13 G84E mutation carriers and risk to twenty common types of cancer: results from the UK Biobank. 
  • Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study. 
  • Global pharmacogenetics: genetic substructure of Eurasian populations and its effect on variants of drug-metabolizing enzymes. 
  • Glutathione S-transferase P1 Ile105Val polymorphism and breast cancer risk: convergence and divergence of the two recent meta-analyses. 
  • Grade-of-membership sibpair linkage analysis maps IDDM11 to chromosome 14q24.3-q31. 
  • HLA antigens in primary immunodeficiency diseases. 
  • HLA class I allelic diversity and progression of fibrosis in patients with chronic hepatitis C. 
  • HLA-B*5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol. 
  • HLA-DR2 dose effect on susceptibility to multiple sclerosis and influence on disease course. 
  • HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG). 
  • Haplotype and genotypes of the VDR gene and cutaneous melanoma risk in non-Hispanic whites in Texas: a case-control study. 
  • Haplotype of signal transducer and activator of transcription 3 gene predicts cardiovascular disease in dialysis patients. 
  • Haplotypes spanning the complement factor H gene are protective against age-related macular degeneration. 
  • Haptoglobin Genotype as a Prognostic Factor for Adverse Events in Coronary Artery Bypass Surgery in Diabetic Patients. 
  • Heteroplasmic mitochondrial DNA mutations in normal and tumour cells. 
  • High genetic diversity and population differentiation in Boechera fecunda, a rare relative of Arabidopsis. 
  • High-Density Genotypes of Inbred Mouse Strains: Improved Power and Precision of Association Mapping. 
  • High-depth sequencing of over 750 genes supports linear progression of primary tumors and metastases in most patients with liver-limited metastatic colorectal cancer. 
  • High-frequency actionable pathogenic exome variants in an average-risk cohort. 
  • Host Genetic Variant in CXCL16 May Be Associated With Hepatitis B Virus-Related Acute Liver Failure. 
  • Human genetic variation in GLS2 is associated with development of complicated Staphylococcus aureus bacteremia. 
  • Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences. 
  • IL28B gene polymorphisms and viral kinetics in HIV/hepatitis C virus-coinfected patients treated with pegylated interferon and ribavirin. 
  • Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer. 
  • Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus. 
  • Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. 
  • Identification of new genetic variants of HLA-DQB1 associated with human longevity and lipid homeostasis-a cross-sectional study in a Chinese population. 
  • Identification of novel genes in late-onset Alzheimer's disease. 
  • Identification of the single base change causing the callipyge muscle hypertrophy phenotype, the only known example of polar overdominance in mammals. 
  • Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. 
  • Impact of measurement error on testing genetic association with quantitative traits. 
  • Improving indel detection specificity of the Ion Torrent PGM benchtop sequencer. 
  • Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation. 
  • Increased efficiency of case-control association analysis by using allele-sharing and covariate information. 
  • Individual common variants exert weak effects on the risk for autism spectrum disorders. 
  • Inductive determination of allele frequency spectrum probabilities in structured populations. 
  • Inference on haplotype/disease association using parent-affected-child data: the projection conditional on parental haplotypes method. 
  • Influence of CYP3A5 genotype on the pharmacokinetics and pharmacodynamics of the cytochrome P4503A probes alfentanil and midazolam. 
  • Influence of the MTHFR C677T polymorphism on magnetic resonance imaging hyperintensity volume and cognition in geriatric depression. 
  • Inherited genetic susceptibility to acute lymphoblastic leukemia in Down syndrome. 
  • Insulin-like growth factor axis gene polymorphisms and clinical outcomes in pancreatic cancer. 
  • Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel. 
  • Interaction Between Peroxisome Proliferator Activated Receptor δ and Epithelial Membrane Protein 2 Polymorphisms Influences HDL-C Levels in the Chinese Population. 
  • Interaction Between the FOXO1A-209 Genotype and Tea Drinking Is Significantly Associated with Reduced Mortality at Advanced Ages. 
  • Interleukin 12B (IL12B) genetic variation and pulmonary tuberculosis: a study of cohorts from The Gambia, Guinea-Bissau, United States and Argentina. 
  • Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis. 
  • Interleukin-1B gene promoter variants are associated with an increased risk of gastric cancer in a Chinese population. 
  • Interpretation of association signals and identification of causal variants from genome-wide association studies. 
  • Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals. 
  • Intracerebral hemorrhage outcome: apolipoprotein E genotype, hematoma, and edema volumes. 
  • Investigation of rheumatoid arthritis susceptibility loci in juvenile idiopathic arthritis confirms high degree of overlap. 
  • KIR genotypic diversity can track ancestries in heterogeneous populations: a potential confounder for disease association studies. 
  • Klotho variants and chronic hemodialysis mortality. 
  • Lack of association between LOXL1 gene polymorphisms and primary open angle glaucoma in the Saudi Arabian population. 
  • Lack of association between LOXL1 variants and primary open-angle glaucoma in three different populations. 
  • Lack of association between UBQLN1 and Alzheimer disease. 
  • Lack of association between apolipoprotein E genotype and sporadic amyotrophic lateral sclerosis. 
  • Lack of association between juvenile idiopathic arthritis and fas gene polymorphism. 
  • Lack of evidence for an association between alpha-adducin and blood pressure regulation in Asian populations. 
  • Lack of genomic imprinting of DNA primase, polypeptide 2 (PRIM2) in human term placenta and white blood cells. 
  • Large candidate gene association study reveals genetic risk factors and therapeutic targets for fibromyalgia. 
  • Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. 
  • Length Polymorphisms in the Angiotensin I-Converting Enzyme Gene and the Serotonin-Transporter-Linked Polymorphic Region Constitute a Risk Haplotype for Depression in Patients with Coronary Artery Disease. 
  • Letter by Gurbel et al regarding article, "Cytochrome 2C19*17 allelic variant, platelet aggregation, bleeding events, and stent thrombosis in clopidogrel-treated patients with coronary stent placement". 
  • Letter: Mutation in Duchenne muscular dystrophy. 
  • Life, diversity and the pursuit of haplotypes. 
  • Linkage analysis with gene-environment interaction: model illustration and performance of ordered subset analysis. 
  • Linkage and association studies of discoidin domain receptor 1 (DDR1) single nucleotide polymorphisms (SNPs) in juvenile oligoarthritis. 
  • Linkage and association with the NOS2A locus on chromosome 17q11 in multiple sclerosis. 
  • Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. 
  • Linkage disequilibrium inflates type I error rates in multipoint linkage analysis when parental genotypes are missing. 
  • Lipoprotein receptor-related protein 1 variants and dietary fatty acids: meta-analysis of European origin and African American studies. 
  • Local adaptation and species segregation in two mussel (Mytilus edulis x Mytilus trossulus) hybrid zones. 
  • Local frequency dependence and global coexistence. 
  • Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. 
  • Logistic regression models for polymorphic and antagonistic pleiotropic gene action on human aging and longevity. 
  • Long-range LD can confound genome scans in admixed populations. 
  • Loss-of-function mutation in tryptophan hydroxylase-2 identified in unipolar major depression. 
  • MDM2 gene promoter polymorphisms and risk of lung cancer: a case-control analysis. 
  • Macroecological patterns of genetic structure and diversity in the aquatic moss Platyhypnidium riparioides. 
  • Major histocompatibility complex variation and evolution at a single, expressed DQA locus in two genera of elephants. 
  • Malaria severity and human nitric oxide synthase type 2 (NOS2) promoter haplotypes. 
  • Mapping strategies for multiple linked markers. 
  • Maternal vitamin D receptor genetic variation contributes to infant birthweight among black mothers. 
  • Matrix metalloproteinase-1 gene promoter polymorphism and risk of ovarian cancer. 
  • Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe. 
  • Menthol preference among smokers: association with TRPA1 variants. 
  • Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. 
  • Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. 
  • Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. 
  • Methylenetetrahydrofolate reductase polymorphisms and risk of squamous cell carcinoma of the head and neck: a case-control analysis. 
  • Methylenetetrahydrofolate reductase polymorphisms/haplotypes and risk of gastric cancer: a case-control analysis in China. 
  • Mitochondrial DNA haplogroups and APOE4 allele are non-independent variables in sporadic Alzheimer's disease. 
  • Mitochondrial polymorphism A10398G and Haplogroup I are associated with Fuchs' endothelial corneal dystrophy. 
  • Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands. 
  • Montagnard ethnicity and genetic relations in northern Cameroon: comment on "The Peopling of Sub-Saharan Africa: The Case Study of Cameroon," by G. Spedini et al. 
  • Mouse model of OPRM1 (A118G) polymorphism has sex-specific effects on drug-mediated behavior. 
  • Multiple mutations and mutation combinations in the sodium channel of permethrin resistant mosquitoes, Culex quinquefasciatus. 
  • Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility. 
  • Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. 
  • Mutation screening of the macrophage migration inhibitory factor gene: positive association of a functional polymorphism of macrophage migration inhibitory factor with juvenile idiopathic arthritis. 
  • Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene. 
  • Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. 
  • Mutations in ribonuclease L gene do not occur at a greater frequency in patients with familial prostate cancer compared with patients with sporadic prostate cancer. 
  • Myocilin polymorphisms and high myopia in subjects of European origin. 
  • NCAM1 and neurocognition in schizophrenia. 
  • NOS2A and the modulating effect of cigarette smoking in Parkinson's disease. 
  • Natural positive selection and north-south genetic diversity in East Asia. 
  • Natural selection on a leaf-shape polymorphism in the ivyleaf morning glory (Ipomoea hederacea). 
  • Near-Absent Levels Of Segregational Variation Suggest Limited Opportunities For The introduction of genetic variation via homeologous chromosome pairing In synthetic neoallotetraploid Mimulus. 
  • Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). 
  • Neural mechanisms of genetic risk for impulsivity and violence in humans. 
  • Nitric oxide synthase 2(Lambaréné) (G-954C), increased nitric oxide production, and protection against malaria. 
  • Nitric oxide synthase type 2 promoter polymorphisms, nitric oxide production, and disease severity in Tanzanian children with malaria. 
  • No association between OPA1 polymorphisms and primary open-angle glaucoma in three different populations. 
  • No association between the HLA-A2 allele and Alzheimer disease. 
  • No association or linkage between an intronic polymorphism of presenilin-1 and sporadic or late-onset familial Alzheimer disease. 
  • No genetic association between the LRP receptor and sporadic or late-onset familial Alzheimer disease. 
  • No genetic effect of alpha1-antichymotrypsin in Alzheimer disease. 
  • Nonsynonymous somatic mitochondrial mutations occur in the majority of cutaneous melanomas. 
  • Novel DNA sequence variations of cytochrome P450 genes in the Han Chinese population. 
  • Novel Genetic Loci Associated With Retinal Microvascular Diameter. 
  • Novel exonic mu-opioid receptor gene (OPRM1) polymorphisms not associated with opioid dependence. 
  • Novelty seeking and the dopamine D4 receptor gene (DRD4) revisited in Asians: haplotype characterization and relevance of the 2-repeat allele. 
  • On the evolution of genetic incompatibility systems. VI. A three-locus modifier model for the origin of gametophytic self-incompatibility. 
  • On the origin of meiotic reproduction: a genetic modifier model. 
  • Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma. 
  • Ordered subset analysis for case-control studies. 
  • Ordered-subset analysis (OSA) for family-based association mapping of complex traits. 
  • Osteopontin polymorphisms and disease course in multiple sclerosis. 
  • Overcoming drug resistance in mantle cell lymphoma using a combination of dose-dense and intense therapy. 
  • PSCA polymorphisms and gastric cancer susceptibility in an eastern Chinese population. 
  • Pars planitis: clinical features and class II HLA associations. 
  • Pathogenic Germline Variants in 10,389 Adult Cancers. 
  • Pharmacogenetic predictors of statin-mediated low-density lipoprotein cholesterol reduction and dose response. 
  • Pharmacogenetics of nevirapine-associated hepatotoxicity: an Adult AIDS Clinical Trials Group collaboration. 
  • Pharmacogenetics of toxic epidermal necrolysis. 
  • Polygenic effects of common single-nucleotide polymorphisms on life span: when association meets causality. 
  • Polymorphic hCHK2/hCds1 codon 84 allele and risk of squamous cell carcinoma of the head and neck--a case-control analysis. 
  • Polymorphism in the TOMM40 gene modifies the risk of developing sporadic inclusion body myositis and the age of onset of symptoms. 
  • Polymorphism in the serotonin transporter gene and moderators of prolactin response to meta-chlorophenylpiperazine in African-American cocaine abusers and controls. 
  • Polymorphism of DNA ligase I and risk of lung cancer--a case-control analysis. 
  • Polymorphism of DNA sequence in the human pro alpha 2(I) collagen gene. 
  • Polymorphisms at newly identified lipid-associated loci are associated with blood lipids and cardiovascular disease in an Asian Malay population. 
  • Polymorphisms in the PON gene cluster are associated with Alzheimer disease. 
  • Polymorphisms in the mTOR gene and risk of sporadic prostate cancer in an Eastern Chinese population. 
  • Polymorphisms in thymidylate synthase gene and susceptibility to breast cancer in a Chinese population: a case-control analysis. 
  • Polymorphisms of CAK genes and risk for lung cancer: a case-control study in Chinese population. 
  • Polymorphisms of FAS and FAS ligand genes involved in the death pathway and risk and progression of squamous cell carcinoma of the head and neck. 
  • Polymorphisms of LIG4 and XRCC4 involved in the NHEJ pathway interact to modify risk of glioma. 
  • Polymorphisms of cytochrome P4501A2 and N-acetyltransferase genes, smoking, and risk of pancreatic cancer. 
  • Polymorphisms of cytosolic serine hydroxymethyltransferase and risk of lung cancer: a case-control analysis. 
  • Polymorphisms of the DNA repair gene XRCC1 and risk of gastric cancer in a Chinese population. 
  • Polymorphisms of vitamin D receptor gene protect against the risk of head and neck cancer. 
  • Pooled deep sequencing of Plasmodium falciparum isolates: an efficient and scalable tool to quantify prevailing malaria drug-resistance genotypes. 
  • Population differences in associations of serotonin transporter promoter polymorphism (5HTTLPR) di- and triallelic genotypes with blood pressure and hypertension prevalence. 
  • Population frequencies of the Triallelic 5HTTLPR in six Ethnicially diverse samples from North America, Southeast Asia, and Africa. 
  • Population genetics of a polyploid: is there hybridization between lineages of Hyla versicolor? 
  • Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders. 
  • Population structure and local selection yield high genomic variation in Mimulus guttatus. 
  • Positive selection on a human-specific transcription factor binding site regulating IL4 expression. 
  • Potential thrombophilic mutations/polymorphisms in patients with no flow-limiting stenosis after myocardial infarction. 
  • Potentially functional polymorphisms in the CASP7 gene contribute to gastric adenocarcinoma susceptibility in an eastern Chinese population. 
  • Potentially functional single nucleotide polymorphisms in the core nucleotide excision repair genes and risk of squamous cell carcinoma of the head and neck. 
  • Potentially functional variants in the core nucleotide excision repair genes predict survival in Japanese gastric cancer patients. 
  • Predicting HLA genotypes using unphased and flanking single-nucleotide polymorphisms in Han Chinese population. 
  • Predisposing germline mutations in high hyperdiploid acute lymphoblastic leukemia in children. 
  • Prevalence of deleterious ATM germline mutations in gastric cancer patients. 
  • Prevalence of factor V G1691A (Leiden), prothrombin G20210A, and methylene tetrahydrofolate reductase C677T thrombophilic mutations in children with inflammatory bowel disease. 
  • Prospective study of warfarin dosage requirements based on CYP2C9 and VKORC1 genotypes. 
  • Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease. 
  • Protein prediction for trait mapping in diverse populations. 
  • Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. 
  • Puzzling role of genetic risk factors in human longevity: "risk alleles" as pro-longevity variants. 
  • Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease. 
  • REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. 
  • Race, common genetic variation, and therapeutic response disparities in heart failure. 
  • Rapid communication: BamHI restriction fragment length polymorphism detected with a pig gastric mucin (MUC5AC) probe. 
  • Rare and low-frequency coding variants alter human adult height. 
  • Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. 
  • Rare genetic variants explain missing heritability in smoking. 
  • Real-Time Genomic Profiling of Pancreatic Ductal Adenocarcinoma: Potential Actionability and Correlation with Clinical Phenotype. 
  • Regulation of TCRβ allelic exclusion by gene segment proximity and accessibility. 
  • Relationship between transferrin saturation and iron stores in the African American and US Caucasian populations: analysis of data from the third National Health and Nutrition Examination Survey. 
  • Replication of genome-wide association signals of type 2 diabetes in Han Chinese in a prospective cohort. 
  • Replication of the recessive STBMS1 locus but with dominant inheritance. 
  • Replication studies in longevity: puzzling findings in Danish centenarians at the 3'APOB-VNTR locus. 
  • Risk of Alzheimer disease with the epsilon4 allele for apolipoprotein E in a population-based study of men aged 62-73 years. 
  • Role of TGF-beta1 in renal parenchymal scarring following childhood urinary tract infection. 
  • RsaI RFLP for electron transport flavoprotein-beta(ETFB). 
  • SAQC: SNP array quality control. 
  • SLC6A4 variation and citalopram response. 
  • SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease. 
  • SNPs in dopamine D2 receptor gene (DRD2) and norepinephrine transporter gene (NET) are associated with continuous performance task (CPT) phenotypes in ADHD children and their families. 
  • SOD2 polymorphisms: unmasking the effect of polymorphism on splicing. 
  • SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma. 
  • Screening of CFTR mutations in an isolated population: identification of carriers and patients. 
  • Selective trade-offs maintain alleles underpinning complex trait variation in plants. 
  • Serotonin transporter genotype (5-HTTLPR): effects of neutral and undefined conditions on amygdala activation. 
  • Serotonin. 
  • Sex differences in the association of the apolipoprotein E epsilon 4 allele with incidence of dementia, cognitive impairment, and decline. 
  • Signatures of neutral evolution in exponentially growing tumors: A theoretical perspective. 
  • Simultaneous genotyping and species identification using hybridization pattern recognition analysis of generic Mycobacterium DNA arrays. 
  • Single nucleotide polymorphism at rs1982073:T869C of the TGFbeta 1 gene is associated with the risk of radiation pneumonitis in patients with non-small-cell lung cancer treated with definitive radiotherapy. 
  • Skin deep: The decoupling of genetic admixture levels from phenotypes that differed between source populations. 
  • Somatic Mutation Allelic Ratio Test Using ddPCR (SMART-ddPCR): An Accurate Method for Assessment of Preferential Allelic Imbalance in Tumor DNA. 
  • Somatic mutations in the transcriptional corepressor gene BCORL1 in adult acute myelogenous leukemia. 
  • Spatial models for hybrid zones. 
  • Specific genetic polymorphisms of IL10-592 AA and IL10-819 TT genotypes lead to the key role for inducing docetaxel-induced liver injury in breast cancer patients. 
  • Statistical analysis of genetic interactions in Tn-Seq data. 
  • Stepping-stone spatial structure causes slow decay of linkage disequilibrium and shifts the site frequency spectrum. 
  • Strategies for dissecting genetic-environmental interactions in neurodegenerative disorders. 
  • Stress, COMT Polymorphisms, and Depressive Symptoms in Older Australian Women: An Exploratory Study. 
  • Study of a US cohort supports the role of ZNF644 and high-grade myopia susceptibility. 
  • Surgical necrotizing enterocolitis in extremely premature neonates is associated with genetic variations in an intergenic region of chromosome 8. 
  • Survey of cystic fibrosis transmembrane conductance regulator genotypes in primary sclerosing cholangitis. 
  • Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease. 
  • T locus shows no evidence for linkage disequilibrium or mutation in American Caucasian neural tube defect families. 
  • T lymphocytes with a normal ADA gene accumulate after transplantation of transduced autologous umbilical cord blood CD34+ cells in ADA-deficient SCID neonates. 
  • TNF, LTA and TGFB1 genotype distributions among acute graft-vs-host disease subsets after HLA-matched unrelated hematopoietic stem cell transplantation: a pilot study. 
  • Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets. 
  • The APL test: extension to general nuclear families and haplotypes and examination of its robustness. 
  • The International HapMap Project. 
  • The Lutheran glycoprotein: a multifunctional adhesion receptor. 
  • The XPD Asp312Asn and Lys751Gln polymorphisms, corresponding haplotype, and pancreatic cancer risk. 
  • The androgen receptor CAG and GGN repeat polymorphisms and prostate cancer susceptibility in African-American men: results from the Flint Men's Health Study. 
  • The association of PTPN22 rs2476601 with juvenile idiopathic arthritis is specific to females. 
  • The association of polymorphisms of CDT1 and GMNN gene with the risk of breast cancer in Chinese women: a case-control analysis. 
  • The changing landscape of Plasmodium falciparum drug resistance in the Democratic Republic of Congo. 
  • The core and accessory genomes of Burkholderia pseudomallei: implications for human melioidosis. 
  • The earliest stages of adaptation in an experimental plant population: strong selection on QTLs for seed dormancy. 
  • The effect of TOMM40 poly-T length on gray matter volume and cognition in middle-aged persons with APOE ε3/ε3 genotype. 
  • The effect of elinogrel on high platelet reactivity during dual antiplatelet therapy and the relation to CYP2C19*2 genotype: first experience in patients. 
  • The estrogen receptor-alpha A908G (K303R) mutation occurs at a low frequency in invasive breast tumors: results from a population-based study. 
  • The genetic attributable risk of breast and ovarian cancer. 
  • The missense of smell: functional variability in the human odorant receptor repertoire. 
  • The probability of HLA-C matching between patient and unrelated donor at the molecular level: estimations based on the linkage disequilibrium between DNA typed HLA-B and HLA-C alleles. 
  • The rate of mitochondrial mutagenesis is faster in mice than humans. 
  • The relationship between methylenetetrahydrofolate reductase polymorphism and hematological malignancy. 
  • The role of KIR genes and their cognate HLA class I ligands in childhood acute lymphoblastic leukemia. 
  • The role of lipid-related genes, aging-related processes, and environment in healthspan. 
  • The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm. 
  • The standing pool of genomic structural variation in a natural population of Mimulus guttatus. 
  • The statistics of bulk segregant analysis using next generation sequencing. 
  • The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians. The NTD Collaborative Group. 
  • The worry about clopidogrel "nonresponsiveness": identification and treatment in the post-percutaneous coronary intervention patient. 
  • Theories of kin and group selection: a population genetics perspective. 
  • Three major haplotypes of the beta2 adrenergic receptor define psychological profile, blood pressure, and the risk for development of a common musculoskeletal pain disorder. 
  • Three novel genetic variants in NRF2 signaling pathway genes are associated with pancreatic cancer risk. 
  • Three polymorphisms in cytochrome P450 1B1 (CYP1B1) gene and breast cancer risk: a meta-analysis. 
  • Three-genome mosses: complex double allopolyploid origins for triploid gametophytes in Sphagnum. 
  • Trade-off in the effects of the apolipoprotein E polymorphism on the ages at onset of CVD and cancer influences human lifespan. 
  • Trans-ethnic Meta-analysis and Functional Annotation Illuminates the Genetic Architecture of Fasting Glucose and Insulin. 
  • Transethnic Evaluation Identifies Low-Frequency Loci Associated With 25-Hydroxyvitamin D Concentrations. 
  • Transferability and fine-mapping of glucose and insulin quantitative trait loci across populations: CARe, the Candidate Gene Association Resource. 
  • Transmission ratio distortion in intraspecific hybrids of Mimulus guttatus: implications for genomic divergence. 
  • Triglyceride-mediated pathways and coronary disease: collaborative analysis of 101 studies. 
  • Tumour necrosis factor receptor II polymorphism and juvenile idiopathic arthritis. 
  • Updated investigations of the role of methylenetetrahydrofolate reductase in human neural tube defects. 
  • VEGFA and VEGFR2 gene polymorphisms and response to anti-vascular endothelial growth factor therapy: comparison of age-related macular degeneration treatments trials (CATT). 
  • VKORC1 haplotypes in five East-Asian populations and Indians. 
  • Validation of prostate cancer risk-related loci identified from genome-wide association studies using family-based association analysis: evidence from the International Consortium for Prostate Cancer Genetics (ICPCG). 
  • Validation study of genetic associations with coronary artery disease on chromosome 3q13-21 and potential effect modification by smoking. 
  • Variant-specific inflation factors for assessing population stratification at the phenotypic variance level. 
  • Variants in toll-like receptors 2 and 9 influence susceptibility to pulmonary tuberculosis in Caucasians, African-Americans, and West Africans. 
  • Variation in the gene encoding the serotonin 2A receptor is associated with outcome of antidepressant treatment. 
  • Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein. 
  • Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis. 
  • Whole-exome sequencing identifies novel somatic alterations associated with outcomes in idiopathic multicentric Castleman disease. 
  • Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. 
• 

  Keywords of People

  • Berchuck, Andrew, James M. Ingram Distinguished Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Buckley, Rebecca Hatcher, James Buren Sidbury Distinguished Professor Emeritus of Pediatrics, in the School of Medicine, Pediatrics, Allergy and Immunology
  • Krangel, Michael S., George Barth Geller Distinguished Professor of Immunology, Integrative Immunobiology
  • Liu, Yutao, Adjunct Assistant Professor in the Department of Medicine, Medicine, Medical Genetics
  • Moorman, Patricia Gripka, Professor Emeritus in Family Medicine and Community Health, Duke Cancer Institute
  • Wray, Gregory Allan, Professor of Biology, Evolutionary Anthropology