Genome, Human

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  Subject Areas on Research

  • 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. 
  • 137 ancient human genomes from across the Eurasian steppes. 
  • 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 CRISPR Activation Screen Identifies a Pan-avian Influenza Virus Inhibitory Host Factor. 
  • A Genome-wide Haploid Genetic Screen Identifies Regulators of Glutathione Abundance and Ferroptosis Sensitivity. 
  • A cellular genome-wide association study reveals human variation in microtubule stability and a role in inflammatory cell death. 
  • A combined genomewide linkage scan of 1,233 families for prostate cancer-susceptibility genes conducted by the international consortium for prostate cancer genetics. 
  • A compendium of promoter-centered long-range chromatin interactions in the human genome. 
  • A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. 
  • A computational framework to assess genome-wide distribution of polymorphic human endogenous retrovirus-K In human populations. 
  • A densely interconnected genome-wide network of microRNAs and oncogenic pathways revealed using gene expression signatures. 
  • A framework for annotating human genome in disease context. 
  • A genome scan for hypertension susceptibility loci in populations of Chinese and Japanese origins. 
  • A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25. 
  • A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14. 
  • A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. 
  • A genome-wide association study of variants associated with acquisition of Staphylococcus aureus bacteremia in a healthcare setting. 
  • A genome-wide in vitro bacterial-infection screen reveals human variation in the host response associated with inflammatory disease. 
  • A genome-wide investigation of SNPs and CNVs in schizophrenia. 
  • A genome-wide linkage analysis of dementia in the Amish. 
  • A genome-wide scan for common alleles affecting risk for autism. 
  • 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 genome-wide trans-ethnic interaction study links the PIGR-FCAMR locus to coronary atherosclerosis via interactions between genetic variants and residential exposure to traffic. 
  • A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study. 
  • A genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases. 
  • A global reference for human genetic variation. 
  • A haplotype map of the human genome. 
  • A high-density genome-wide association screen of sporadic ALS in US veterans. 
  • A high-resolution map of human evolutionary constraint using 29 mammals. 
  • A large set of Finnish affected sibling pair families with type 2 diabetes suggests susceptibility loci on chromosomes 6, 11, and 14. 
  • A large-scale survey of genetic copy number variations among Han Chinese residing in Taiwan. 
  • A map of 75 human ribosomal protein genes. 
  • A national clinical decision support infrastructure to enable the widespread and consistent practice of genomic and personalized medicine. 
  • A new analysis tool for individual-level allele frequency for genomic studies. 
  • A new class of temporarily phenotypic enhancers identified by CRISPR/Cas9-mediated genetic screening. 
  • A novel haplotype-sharing approach for genome-wide case-control association studies implicates the calpastatin gene in Parkinson's disease. 
  • A physical map of 30,000 human genes. 
  • A physical map of the human Y chromosome. 
  • A physical map of the human genome. 
  • A physical map of the mouse genome. 
  • A public resource facilitating clinical use of genomes. 
  • A regression-based association test for case-control studies that uses inferred ancestral haplotype similarity. 
  • A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources. 
  • A saturated map of common genetic variants associated with human height. 
  • A second-generation genomic screen for multiple sclerosis. 
  • A study of the repetitive structure and distribution of short motifs in human genomic sequences. 
  • A trade secret model for genomic biobanking. 
  • A transcription factor affinity-based code for mammalian transcription initiation. 
  • A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. 
  • A user's guide to the encyclopedia of DNA elements (ENCODE). 
  • A whole-genome analysis of premature termination codons. 
  • A whole-genome association study of major determinants for host control of HIV-1. 
  • A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene. 
  • ACVR1 R206H cooperates with H3.1K27M in promoting diffuse intrinsic pontine glioma pathogenesis. 
  • Aberrant allele frequencies of the SNPs located in microRNA target sites are potentially associated with human cancers. 
  • Abundant raw material for cis-regulatory evolution in humans. 
  • Adaptive evolution drives the diversification of zinc-finger binding domains. 
  • Adaptive sequence divergence forged new neurodevelopmental enhancers in humans. 
  • Admixture mapping scans identify a locus affecting retinal vascular caliber in hypertensive African Americans: the Atherosclerosis Risk in Communities (ARIC) study. 
  • Advances in pharmacogenomic research and development. 
  • Affected-sib-pair interval mapping and exclusion for complex genetic traits: sampling considerations. 
  • Age-related variations in the methylome associated with gene expression in human monocytes and T cells. 
  • Allele-specific and heritable chromatin signatures in humans. 
  • Alpha satellite DNA biology: finding function in the recesses of the genome. 
  • Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery. 
  • An Atlas of Genetic Variation Linking Pathogen-Induced Cellular Traits to Human Disease. 
  • An STS-based map of the human genome. 
  • An encyclopedia of mouse DNA elements (Mouse ENCODE). 
  • An integrated encyclopedia of DNA elements in the human genome. 
  • An integrated genomic analysis of human glioblastoma multiforme. 
  • An integrated map of genetic variation from 1,092 human genomes. 
  • An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error. 
  • An international collaborative family-based whole-genome linkage scan for high-grade myopia. 
  • Ancestry adjustment improves genome-wide estimates of regional intolerance. 
  • Ancient West African foragers in the context of African population history. 
  • Annotating the human genome with Disease Ontology. 
  • Applying family analyses to electronic health records to facilitate genetic research. 
  • Architecture of the human regulatory network derived from ENCODE data. 
  • Assessment of protein dynamics and DNA repair following generation of DNA double-strand breaks at defined genomic sites. 
  • Association of genomic subtypes of lower-grade gliomas with shape features automatically extracted by a deep learning algorithm. 
  • Association test using Copy Number Profile Curves (CONCUR) enhances power in rare copy number variant analysis. 
  • Associations between genome-wide Native American ancestry, known risk alleles and B-cell ALL risk in Hispanic children. 
  • Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. 
  • Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study. 
  • Bisulfite pyrosequencing. 
  • Bisulfite sequencing of cloned alleles. 
  • Building evidence and measuring clinical outcomes for genomic medicine. 
  • COUP-TFII regulates human endometrial stromal genes involved in inflammation. 
  • CRISPR-Cas9 epigenome editing enables high-throughput screening for functional regulatory elements in the human genome. 
  • Cadmium exposure and the epigenome: Exposure-associated patterns of DNA methylation in leukocytes from mother-baby pairs. 
  • Can Genetics Predict Response to Complex Behavioral Interventions? Evidence from a Genetic Analysis of the Fast Track Randomized Control Trial 
  • Cancer genomics: integrating form and function. 
  • Cardiovascular genomics: estimating the total number of genes expressed in the human cardiovascular system. 
  • Cas9 loosens its grip on off-target sites. 
  • Cell-type specific and combinatorial usage of diverse transcription factors revealed by genome-wide binding studies in multiple human cells. 
  • Changing the paradigm from 'race' to human genome variation. 
  • Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. 
  • Characterization of a Human-Specific Tandem Repeat Associated with Bipolar Disorder and Schizophrenia. 
  • Characterization of long G4-rich enhancer-associated genomic regions engaging in a novel loop:loop 'G4 Kissing' interaction. 
  • Characterizing genetic and environmental influences on variable DNA methylation using monozygotic and dizygotic twins. 
  • Chromatin accessibility reveals insights into androgen receptor activation and transcriptional specificity. 
  • Chromosome 17q12 variants contribute to risk of early-onset prostate cancer. 
  • Chromosomes with high gene density are preferentially repaired in human cells. 
  • Clinical application of whole-genome sequencing in patients with primary immunodeficiency. 
  • Clinical interpretation and implications of whole-genome sequencing. 
  • Clinical utility of FoundationOne tissue molecular profiling in men with metastatic prostate cancer. 
  • Common familial colorectal cancer linked to chromosome 7q31: a genome-wide analysis. 
  • Common minor histocompatibility antigen discovery based upon patient clinical outcomes and genomic data. 
  • Common variants at 19p13 are associated with susceptibility to ovarian cancer. 
  • Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. 
  • Comparative analyses of two primate species diverged by more than 60 million years show different rates but similar distribution of genome-wide UV repair events. 
  • Comparative genomics search for losses of long-established genes on the human lineage. 
  • Complete genomic and epigenetic maps of human centromeres. 
  • Complete genomic screen in late-onset familial Alzheimer's disease. 
  • Complex phenotypes and phenomenon of genome-wide inter-chromosomal linkage disequilibrium in the human genome. 
  • Comprehensive and Integrated Genomic Characterization of Adult Soft Tissue Sarcomas. 
  • Comprehensive biomarker and genomic analysis identifies p53 status as the major determinant of response to MDM2 inhibitors in chronic lymphocytic leukemia. 
  • Comprehensive genomic characterization defines human glioblastoma genes and core pathways. 
  • Comprehensive long-span paired-end-tag mapping reveals characteristic patterns of structural variations in epithelial cancer genomes. 
  • Comprehensive molecular characterization of gastric adenocarcinoma. 
  • Comprehensive molecular portraits of human breast tumours. 
  • Computational and experimental identification of novel human imprinted genes. 
  • Conceptualizing human variation. 
  • Connecting genetic risk to disease end points through the human blood plasma proteome. 
  • Considerations for the impact of personal genome information: a study of genomic profiling among genetics and genomics professionals. 
  • Correcting signal biases and detecting regulatory elements in STARR-seq data. 
  • Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. 
  • DNA methyltransferase levels and altered CpG methylation in the total genome and in the GSTP1 gene in human glioma cells transfected with sense and antisense DNA methyltransferase cDNA. 
  • DNase I sensitivity QTLs are a major determinant of human expression variation. 
  • Decoding the role of regulatory element polymorphisms in complex disease. 
  • Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries. 
  • Deep whole-genome sequencing of 100 southeast Asian Malays. 
  • Deep-coverage whole genome sequences and blood lipids among 16,324 individuals. 
  • Defining functional DNA elements in the human genome. 
  • Defining the spectrum of genome policy. 
  • Detection of phylogenetically diverse human immunodeficiency virus type 1 groups M and O from plasma by using highly sensitive and specific generic primers. 
  • Differential gene expression and genomic patient stratification following left ventricular assist device support. 
  • Differentially methylated regions of imprinted genes in prenatal, perinatal and postnatal human tissues. 
  • Direct GR Binding Sites Potentiate Clusters of TF Binding across the Human Genome. 
  • Discovering sequences with potential regulatory characteristics. 
  • Discovery of MLL1 binding units, their localization to CpG Islands, and their potential function in mitotic chromatin. 
  • Dissecting the regulatory architecture of gene expression QTLs. 
  • Distinct DNA methylation patterns characterize differentiated human embryonic stem cells and developing human fetal liver. 
  • Distinct Responses of Stem Cells to Telomere Uncapping-A Potential Strategy to Improve the Safety of Cell Therapy. 
  • Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome. 
  • Early de novo DNA methylation and prolonged demethylation in the muscle lineage. 
  • Effects of sequence variation on differential allelic transcription factor occupancy and gene expression. 
  • Embracing the complexity of genomic data for personalized medicine. 
  • Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example. 
  • Endangered species hold clues to human evolution. 
  • Evaluation of transethnic fine mapping with population-specific and cosmopolitan imputation reference panels in diverse Asian populations. 
  • Evidence-ranked motif identification. 
  • Evolution and antiviral activity of a human protein of retroviral origin. 
  • Expanding studies of chromosome structure and function in the era of T2T genomics. 
  • Experimental and pan-cancer genome analyses reveal widespread contribution of acrylamide exposure to carcinogenesis in humans. 
  • Extended haplotype-phasing of long-read de novo genome assemblies using Hi-C. 
  • Extensive evolutionary changes in regulatory element activity during human origins are associated with altered gene expression and positive selection. 
  • Extracellular superoxide dismutase haplotypes are associated with acute lung injury and mortality. 
  • False positive rates in a genomic screen for complex quantitative traits. 
  • Family history assessment significantly enhances delivery of precision medicine in the genomics era. 
  • Fast and robust association tests for untyped SNPs in case-control studies. 
  • Finishing the euchromatic sequence of the human genome. 
  • Flexible use of high-density oligonucleotide arrays for single-nucleotide polymorphism discovery and validation. 
  • Functional analysis of novel SNPs and mutations in human and mouse genomes. 
  • Functional genomics identifies specific vulnerabilities in PTEN-deficient breast cancer. 
  • GLIOGENE an International Consortium to Understand Familial Glioma. 
  • Gene expression and adaptive noncoding changes during human evolution. 
  • Gene expression programs in response to hypoxia: cell type specificity and prognostic significance in human cancers. 
  • Generalized admixture mapping for complex traits. 
  • Generating RNA Baits for Capture-Based Enrichment. 
  • Genetic analysis of complex diseases. 
  • Genetic and functional association of FAM5C with myocardial infarction. 
  • Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study. 
  • Genetic determinants of retinal vascular caliber: additional insights into hypertension pathogenesis. 
  • Genetic heterogeneity in MCAD deficiency: frequency of K329E allele and identification of three additional mutant alleles. 
  • Genetic profiling and tailored therapy in asthma: are we there yet? 
  • Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. 
  • Genetic signatures of exceptional longevity in humans. 
  • Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance. 
  • Genetics of coronary heart disease: current understanding and future prospects. 
  • Genic intolerance to functional variation and the interpretation of personal genomes. 
  • Genistein and bisphenol A exposure cause estrogen receptor 1 to bind thousands of sites in a cell type-specific manner. 
  • GenoWatch: a disease gene mining browser for association study. 
  • Genome Engineering for Personalized Arthritis Therapeutics. 
  • Genome engineering: a new approach to gene therapy for neuromuscular disorders. 
  • Genome maps 7. The human transcript map. Wall chart. 
  • Genome organization and three kinds of heritable changes: general description and stochastic factors (a review). 
  • Genome technologies and personalized dental medicine. 
  • Genome wide analysis and clinical correlation of chromosomal and transcriptional mutations in cancers of the biliary tract. 
  • Genome-defined African ancestry is associated with distinct mutations and worse survival in patients with diffuse large B-cell lymphoma. 
  • Genome-scale screen for DNA methylation-based detection markers for ovarian cancer. 
  • Genome-sequencing anniversary. My genome, my identity, my health. 
  • Genome-wide analysis of menin binding provides insights into MEN1 tumorigenesis. 
  • Genome-wide analysis reveals positional-nucleosome-oriented binding pattern of pioneer factor FOXA1. 
  • Genome-wide association analysis identifies six new loci associated with forced vital capacity. 
  • Genome-wide association study and meta-analysis of intraocular pressure. 
  • Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease. 
  • Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci. 
  • Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study. 
  • Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. 
  • Genome-wide association study of kidney function decline in individuals of European descent. 
  • Genome-wide association study of young-onset hypertension in the Han Chinese population of Taiwan. 
  • Genome-wide copy number analysis using copy number inferring tool (CNIT) and DNA pooling. 
  • Genome-wide detection and characterization of positive selection in human populations. 
  • Genome-wide gene-environment interaction analysis for asbestos exposure in lung cancer susceptibility. 
  • Genome-wide high-density SNP linkage search for glioma susceptibility loci: results from the Gliogene Consortium. 
  • Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. 
  • Genome-wide linkage analysis of 1,233 prostate cancer pedigrees from the International Consortium for Prostate Cancer Genetics using novel sumLINK and sumLOD analyses. 
  • Genome-wide linkage of 77 families from the African American Hereditary Prostate Cancer study (AAHPC). 
  • Genome-wide linkage scan for prostate cancer aggressiveness loci using families from the University of Michigan Prostate Cancer Genetics Project. 
  • Genome-wide linkage scan for prostate cancer susceptibility genes in men with aggressive disease: significant evidence for linkage at chromosome 15q12. 
  • Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS). 
  • Genome-wide mutational signatures of aristolochic acid and its application as a screening tool. 
  • Genome-wide quantification of the effects of DNA methylation on human gene regulation. 
  • Genome-wide regulatory analysis using en masse nuclear run-ons and ribonomic profiling with autoimmune sera. 
  • Genome-wide scan for adult onset primary open angle glaucoma. 
  • Genome-wide scan for prostate cancer susceptibility genes using families from the University of Michigan prostate cancer genetics project finds evidence for linkage on chromosome 17 near BRCA1. 
  • Genome-wide specificity of DNA binding, gene regulation, and chromatin remodeling by TALE- and CRISPR/Cas9-based transcriptional activators. 
  • Genomic Medicine: 'grand challenges' in the translation of genomics to human health. 
  • Genomic amplification and oncogenic properties of the KCNK9 potassium channel gene. 
  • Genomic and Molecular Landscape of DNA Damage Repair Deficiency across The Cancer Genome Atlas. 
  • Genomic and personalized medicine: foundations and applications. 
  • Genomic characterization of HER2-positive breast cancer and response to neoadjuvant trastuzumab and chemotherapy-results from the ACOSOG Z1041 (Alliance) trial. 
  • Genomic characterization of chronic lymphocytic leukemia (CLL) in radiation-exposed Chornobyl cleanup workers. 
  • Genomic correlates of variability in immune response to an oral cholera vaccine. 
  • Genomic counseling: next generation counseling. 
  • Genomic features that predict allelic imbalance in humans suggest patterns of constraint on gene expression variation. 
  • Genomic mismatch scanning: a new approach to genetic linkage mapping. 
  • Genomic profiles specific to patient ethnicity in lung adenocarcinoma. 
  • Genomic signatures to guide the use of chemotherapeutics. 
  • Genomic structure and chromosomal localization of the novel ETS factor, PE-2 (ERF). 
  • Genomic structure and organization of the high grade Myopia-2 locus (MYP2) critical region: mutation screening of 9 positional candidate genes. 
  • Genomics of Cardiovascular Measures of Autonomic Tone. 
  • Global impact of RNA splicing on transcriptome remodeling in the heart. 
  • Global implementation of genomic medicine: We are not alone. 
  • Global search for chromosomal abnormalities in infiltrating ductal carcinoma of the breast using array-comparative genomic hybridization. 
  • HIV infection reveals widespread expansion of novel centromeric human endogenous retroviruses. 
  • Han Chinese cell and genome bank in Taiwan: purpose, design and ethical considerations. 
  • Hemoglobinopathies: slicing the Gordian knot of Plasmodium falciparum malaria pathogenesis. 
  • High resolution analysis of genomic aberrations by metaphase and array comparative genomic hybridization identifies candidate tumour genes in lung cancer cell lines. 
  • 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-resolution mapping and characterization of open chromatin across the genome. 
  • High-risk and intermediate-high-risk results from the ThyroSeq v2 and v3 thyroid genomic classifier are associated with neoplasia: Independent performance assessment at an academic institution. 
  • Histone modifications at human enhancers reflect global cell-type-specific gene expression. 
  • Human genetic admixture. 
  • Human genome-wide measurement of drug-responsive regulatory activity. 
  • Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences. 
  • Human microRNA genes are frequently located at fragile sites and genomic regions involved in cancers. 
  • Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. 
  • Identification and characterization of cell type-specific and ubiquitous chromatin regulatory structures in the human genome. 
  • Identification of Chiari Type I Malformation subtypes using whole genome expression profiles and cranial base morphometrics. 
  • Identification of a new subclass of Alu DNA repeats which can function as estrogen receptor-dependent transcriptional enhancers. 
  • Identification of cis-suppression of human disease mutations by comparative genomics. 
  • Identification of human short introns. 
  • Identification of novel genes in late-onset Alzheimer's disease. 
  • Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. 
  • Impact of ancestry and common genetic variants on QT interval in African Americans. 
  • Impact of delivery models on understanding genomic risk for type 2 diabetes. 
  • Impact of limited population diversity of genome-wide association studies. 
  • Implementing genome-driven personalized cardiology in clinical practice. 
  • Implications of the first complete human genome assembly. 
  • In-depth characterization of the cisplatin mutational signature in human cell lines and in esophageal and liver tumors. 
  • Increased mutation and gene conversion within human segmental duplications. 
  • Infectious disease models in zebrafish. 
  • Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs. 
  • Inherited causes of clonal haematopoiesis in 97,691 whole genomes. 
  • Initial sequencing and analysis of the human genome. 
  • Initial sequencing and comparative analysis of the mouse genome. 
  • Integrated Genomic Analysis of the Ubiquitin Pathway across Cancer Types. 
  • Integrated analysis identifies a class of androgen-responsive genes regulated by short combinatorial long-range mechanism facilitated by CTCF. 
  • Integrated genetic analyses revealed novel human longevity loci and reduced risks of multiple diseases in a cohort study of 15,651 Chinese individuals. 
  • Integrated genetic and genomic approach in the SingaporeTranslational and Clinical Research in Psychosis Study: an overview. 
  • Integrated genomic characterization of endometrial carcinoma. 
  • Integrated genomic characterization of oesophageal carcinoma. 
  • Integrating common and rare genetic variation in diverse human populations. 
  • Integrating ethics and science in the International HapMap Project. 
  • Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel. 
  • Integrative annotation of variants from 1092 humans: application to cancer genomics. 
  • Integrative genomic approaches to understanding cancer. 
  • Inter-chromosomal level of genome organization and longevity-related phenotypes in humans. 
  • Interpretation of simultaneous linkage and family-based association tests in genome screens. 
  • Joint influence of small-effect genetic variants on human longevity. 
  • Lack of genomic imprinting of DNA primase, polypeptide 2 (PRIM2) in human term placenta and white blood cells. 
  • Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. 
  • Letting the genome out of the bottle. 
  • Leveraging genome-wide data to investigate differences between opioid use vs. opioid dependence in 41,176 individuals from the Psychiatric Genomics Consortium. 
  • Life, diversity and the pursuit of haplotypes. 
  • Linkage disequilibrium and signatures of positive selection around LINE-1 retrotransposons in the human genome. 
  • Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. 
  • Linking short tandem repeat polymorphisms with cytosine modifications in human lymphoblastoid cell lines. 
  • Living laboratory: whole-genome sequencing as a learning healthcare enterprise. 
  • Long contiguous stretches of homozygosity in the human genome. 
  • Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease. 
  • MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome. 
  • MATCHER: manifold alignment reveals correspondence between single cell transcriptome and epigenome dynamics. 
  • Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas. 
  • Main principles and outcomes of DNA methylation analysis. 
  • Mapping and characterization of structural variation in 17,795 human genomes. 
  • Mapping and characterization of the amplicon near APOA2 in 1q23 in human sarcomas by FISH and array CGH. 
  • Mapping nucleosome positions using DNase-seq. 
  • Mapping the proteo-genomic convergence of human diseases. 
  • Massively parallel quantification of the regulatory effects of noncoding genetic variation in a human cohort. 
  • Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci. 
  • Meta-analysis of epigenome-wide association studies in neonates reveals widespread differential DNA methylation associated with birthweight. 
  • Meta-analysis of gene-environment interaction: joint estimation of SNP and SNP × environment regression coefficients. 
  • Meta-analysis of genome scans of age-related macular degeneration. 
  • Methylation-specific PCR. 
  • Minimal PAM specificity of a highly similar SpCas9 ortholog. 
  • Molecular genetics and genomics of heart failure. 
  • Molecular genetics of nicotine dependence and abstinence: whole genome association using 520,000 SNPs. 
  • Molecular medicine tumor board: whole-genome sequencing to inform on personalized medicine for a man with advanced prostate cancer. 
  • Molecular subtypes of diffuse large B-cell lymphoma arise by distinct genetic pathways. 
  • Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. 
  • Multistage designs in the genomic era: providing balance in complex disease studies. 
  • Mutational signatures of de-differentiation in functional non-coding regions of melanoma genomes. 
  • Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c. 
  • Natural positive selection and north-south genetic diversity in East Asia. 
  • Network-based SNP meta-analysis identifies joint and disjoint genetic features across common human diseases. 
  • New genetic loci link adipose and insulin biology to body fat distribution. 
  • Observation of dually decoded regions of the human genome using ribosome profiling data. 
  • Only connect: personal genomics and the future of American medicine. 
  • Open Chromatin Profiling in Adipose Tissue Marks Genomic Regions with Functional Roles in Cardiometabolic Traits. 
  • Opportunities for the Cardiovascular Community in the Precision Medicine Initiative. 
  • Organization of the human aromatase p450 (CYP19) gene. 
  • Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics. 
  • PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus. 
  • PSORS2 is due to mutations in CARD14. 
  • Pan-cancer analysis of whole genomes. 
  • Patterns of regulatory activity across diverse human cell types predict tissue identity, transcription factor binding, and long-range interactions. 
  • Patterns of somatic mutation in human cancer genomes. 
  • Penalized multimarker vs. single-marker regression methods for genome-wide association studies of quantitative traits. 
  • Performance assessment of promoter predictions on ENCODE regions in the EGASP experiment. 
  • Personal genomes in progress: from the human genome project to the personal genome project. 
  • Personalized medicine: progress and promise. 
  • Personalized medicine: revolutionizing drug discovery and patient care. 
  • Pharmacogenomics in childhood rheumatic disorders: a foundation for future individualized therapy. 
  • Physiological genomics: implications in hypertension research. 
  • Polygenic effects of common single-nucleotide polymorphisms on life span: when association meets causality. 
  • Potential of whole-genome sequencing for determining risk and personalizing therapy: focus on AML. 
  • Pre-established Chromatin Interactions Mediate the Genomic Response to Glucocorticoids. 
  • Precision Medicine: From Science To Value. 
  • Prediction of genome-wide DNA methylation in repetitive elements. 
  • Premature myocardial infarction novel susceptibility locus on chromosome 1P34-36 identified by genomewide linkage analysis. 
  • Preparation and screening of an arrayed human genomic library generated with the P1 cloning system. 
  • Profiling the quantitative occupancy of myriad transcription factors across conditions by modeling chromatin accessibility data. 
  • Promoter regions of many neural- and nutrition-related genes have experienced positive selection during human evolution 
  • Promoting public awareness and engagement in genome sciences. 
  • Prospective estimation of recombination signal efficiency and identification of functional cryptic signals in the genome by statistical modeling. 
  • Quantitative and Qualitative Role of Antagonistic Heterogeneity in Genetics of Blood Lipids. 
  • Rare and low-frequency coding variants alter human adult height. 
  • Reactions to the National Academies/Royal Society Report on Heritable Human Genome Editing . 
  • Reading frame correction by targeted genome editing restores dystrophin expression in cells from Duchenne muscular dystrophy patients. 
  • Realizing the opportunities of genomics in health care. 
  • Redefining Genomic Privacy: Trust and Empowerment 
  • Repeat polymorphisms within gene regions: phenotypic and evolutionary implications. 
  • Reply to Brunet and Doolittle: Both selected effect and causal role elements can influence human biology and disease. 
  • Report and abstracts of the sixth international workshop on human chromosome 1 mapping 2000. Iowa City, Iowa, USA. 30 September-3 October 2000. 
  • Report of the committee on the genetic constitution of chromosomes 18 and 19. 
  • Responsible Use of Human Gene-Editing Technologies. 
  • Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples. 
  • Review: human endogenous retroviruses and the placenta. 
  • Risk alleles for multiple sclerosis identified by a genomewide study. 
  • Robust regression analysis of copy number variation data based on a univariate score. 
  • SAQC: SNP array quality control. 
  • SNPs in Multi-species Conserved Sequences (MCS) as useful markers in association studies: a practical approach. 
  • SNPselector: a web tool for selecting SNPs for genetic association studies. 
  • SNiPA: an interactive, genetic variant-centered annotation browser. 
  • SOX2 is an amplified lineage-survival oncogene in lung and esophageal squamous cell carcinomas. 
  • SVA: software for annotating and visualizing sequenced human genomes. 
  • Sample type bias in the analysis of cancer genomes. 
  • Scientists unveil first draft of human genome. 
  • Score-based adjustment for confounding by population stratification in genetic association studies. 
  • Screening the genome for rheumatoid arthritis susceptibility genes: a replication study and combined analysis of 512 multicase families. 
  • Screening the human exome: a comparison of whole genome and whole transcriptome sequencing. 
  • Semi-automated assembly of high-quality diploid human reference genomes. 
  • Sequence specificity incompletely defines the genome-wide occupancy of Myc. 
  • Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. 
  • Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study. 
  • Sex differences in oncogenic mutational processes. 
  • Shrinkage estimation for robust and efficient screening of single-SNP association from case-control genome-wide association studies. 
  • Signatures of neutral evolution in exponentially growing tumors: A theoretical perspective. 
  • Skin deep: The decoupling of genetic admixture levels from phenotypes that differed between source populations. 
  • Statistical Viewer: a tool to upload and integrate linkage and association data as plots displayed within the Ensembl genome browser. 
  • Stochastic initiation of DNA replication across the human genome. 
  • Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates. 
  • Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration. 
  • Structure-guided reprogramming of serine recombinase DNA sequence specificity. 
  • Subgroup-specific structural variation across 1,000 medulloblastoma genomes. 
  • Subtype-specific 3D genome alteration in acute myeloid leukaemia. 
  • Summarizing polygenic risks for complex diseases in a clinical whole-genome report. 
  • Survey of variation in human transcription factors reveals prevalent DNA binding changes. 
  • Synthesis of programmable integrases. 
  • Synthetic zinc finger proteins: the advent of targeted gene regulation and genome modification technologies. 
  • Systematic detection of positive selection in the human-pathogen interactome and lasting effects on infectious disease susceptibility. 
  • Targeted long-read sequencing identifies missing disease-causing variation. 
  • Targeted plasmid integration into the human genome by an engineered zinc-finger recombinase. 
  • Teaching old receptors new tricks: biasing seven-transmembrane receptors. 
  • Telomere-to-telomere assembly of a complete human X chromosome. 
  • The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma. 
  • The ENCODE (ENCyclopedia Of DNA Elements) Project. 
  • The Expressed Genome in Cardiovascular Diseases and Stroke: Refinement, Diagnosis, and Prediction: A Scientific Statement From the American Heart Association. 
  • The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. I. An autosomal genome scan for genes that predispose to type 2 diabetes. 
  • The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. II. An autosomal genome scan for diabetes-related quantitative-trait loci. 
  • The Human Pangenome Project: a global resource to map genomic diversity. 
  • The International HapMap Project. 
  • The International Human Epigenome Consortium: A Blueprint for Scientific Collaboration and Discovery. 
  • The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine. 
  • The NIH Somatic Cell Genome Editing program. 
  • The New Science of Practical Wisdom. 
  • The accessible chromatin landscape of the human genome. 
  • The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. 
  • The antisense transcriptomes of human cells. 
  • The case for strategic international alliances to harness nutritional genomics for public and personal health. 
  • The characterization of twenty sequenced human genomes. 
  • The colorectal microRNAome. 
  • The complete sequence of a human genome. 
  • The dangers of diagnostic monopolies. 
  • The evolutionary dynamics of alpha-satellite. 
  • The factor XII -4C>T variant and risk of common thrombotic disorders: A HuGE review and meta-analysis of evidence from observational studies. 
  • The g-value paradox. 
  • The genetic landscape of mutations in Burkitt lymphoma. 
  • The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease. 
  • The genome-wide impact of trisomy 21 on DNA methylation and its implications for hematopoiesis. 
  • The genome-wide mutational landscape of pituitary adenomas. 
  • The human CYP19 (aromatase P450) gene: update on physiologic roles and genomic organization of promoters. 
  • The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes. 
  • The path to personalized medicine. 
  • The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X. 
  • The use of single-nucleotide polymorphism maps in pharmacogenomics. 
  • The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders. 
  • The value of population-based studies in the genomic era. 
  • The whole-genome landscape of medulloblastoma subtypes. 
  • Three-tiered role of the pioneer factor GATA2 in promoting androgen-dependent gene expression in prostate cancer. 
  • Tissue-specific genetic control of splicing: implications for the study of complex traits. 
  • Toward a Shared Vision for Cancer Genomic Data. 
  • Toward clinical genomics in everyday medicine: perspectives and recommendations. 
  • Translating genomic biomarkers into clinically useful diagnostics. 
  • Tumor Heterogeneity and Therapeutic Resistance. 
  • Two-locus genome-wide linkage scan for prostate cancer susceptibility genes with an interaction effect. 
  • US and Scottish Health Professionals attitudes toward DNA biobanking. 
  • Using ERDS to infer copy-number variants in high-coverage genomes. 
  • Using secondary structure to identify ribosomal numts: cautionary examples from the human genome. 
  • Validation of genome-wide prostate cancer associations in men of African descent. 
  • VarioWatch: providing large-scale and comprehensive annotations on human genomic variants in the next generation sequencing era. 
  • Wake-up call from Hong Kong. 
  • Warning SINEs: Alu elements, evolution of the human brain, and the spectrum of neurological disease. 
  • We are the genes we've been waiting for: rational responses to the gathering storm of personal genomics. 
  • What are people willing to pay for whole-genome sequencing information, and who decides what they receive? 
  • Whole Genomic Copy Number Alterations in Circulating Tumor Cells from Men with Abiraterone or Enzalutamide-Resistant Metastatic Castration-Resistant Prostate Cancer. 
  • Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10. 
  • Whole-Genome and Segmental Homozygosity Confirm Errors in Meiosis as Etiology of Struma Ovarii. 
  • Whole-epigenome analysis in multiple myeloma reveals DNA hypermethylation of B cell-specific enhancers. 
  • Whole-genome analysis informs breast cancer response to aromatase inhibition. 
  • Whole-genome fingerprint of the DNA methylome during human B cell differentiation. 
  • cDNA arrays and the enigma of melanoma immune responsiveness. 
• 

  Keywords of People

  • Berchuck, Andrew, James M. Ingram Distinguished Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Granger, Christopher Bull, Professor of Medicine, School of Nursing
  • Hartemink, Alexander J., Professor in the Department of Computer Science, Biology
  • Liu, Yutao, Adjunct Assistant Professor in the Department of Medicine, Medicine, Medical Genetics
  • McLendon, Roger Edwin, Professor of Pathology, Pathology
  • Moorman, Patricia Gripka, Professor Emeritus in Family Medicine and Community Health, Duke Cancer Institute
  • Reddy, Timothy E, Associate Professor of Biostatistics & Bioinformatics,, Molecular Genetics and Microbiology
  • Wray, Gregory Allan, Professor of Biology, Evolutionary Anthropology