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Yi-Ju Li

Professor of Biostatistics & Bioinformatics
Biostatistics & Bioinformatics, Division of Integrative Genomics
Duke Box 104775, Durham, NC 27708
300 North Duke Street, 47-122 Carmichael Warehouse, Durham, NC 27701

Featured Works


Genome-wide association study of acute kidney injury after coronary bypass graft surgery identifies susceptibility loci.

Journal article Kidney Int · October 2015 Featured Publication Acute kidney injury (AKI) is a common, serious complication of cardiac surgery. Since prior studies have supported a genetic basis for postoperative AKI, we conducted a genome-wide association study (GWAS) for AKI following coronary bypass graft (CABG) sur ... Full text Open Access Link to item Cite

Apolipoprotein epsilon 4 genotype is associated with less improvement in cognitive function five years after cardiac surgery: a retrospective cohort study.

Journal article Can J Anaesth · June 2015 Featured Publication PURPOSE: Cognitive performance after cardiac surgery can be impaired, and genetic risk factors have previously been suggested. When compared with other isoforms of the gene, the apolipoprotein epsilon 4 (APOE4) allele is associated with worse outcomes in m ... Full text Link to item Cite

Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery.

Journal article BMJ Open · May 6, 2015 Featured Publication OBJECTIVES: Identification of patient subpopulations susceptible to develop myocardial infarction (MI) or, conversely, those displaying either intrinsic cardioprotective phenotypes or highly responsive to protective interventions remain high-priority knowl ... Full text Open Access Link to item Cite

G protein-coupled receptor kinase 5 gene polymorphisms are associated with postoperative atrial fibrillation after coronary artery bypass grafting in patients receiving β-blockers.

Other Circ Cardiovasc Genet · October 2014 Featured Publication BACKGROUND: We hypothesized that genetic variations in the adrenergic signaling pathway and cytochrome P450 2D6 enzyme are associated with new-onset atrial fibrillation (AF) in patients who underwent coronary artery bypass grafting and were treated with pe ... Full text Link to item Cite

Mitochondrial polymorphism A10398G and Haplogroup I are associated with Fuchs' endothelial corneal dystrophy.

Journal article Invest Ophthalmol Vis Sci · June 10, 2014 Featured Publication PURPOSE: We investigated whether mitochondrial DNA (mtDNA) variants affect the susceptibility of Fuchs endothelial corneal dystrophy (FECD). METHODS: Ten mtDNA variants defining European haplogroups were genotyped in a discovery dataset consisting of 530 c ... Full text Link to item Cite

Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders.

Journal article Hum Mol Genet · March 15, 2014 Featured Publication The molecular basis for the majority of cases of autism spectrum disorders (ASD) remains unknown. We tested the hypothesis that ASD have an epigenetic cause by performing DNA methylation profiling of five CpG islands (CGI-1 to CGI-5) in the SHANK3 gene in ... Full text Link to item Cite

Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.

Journal article Am J Hum Genet · May 2, 2013 Featured Publication Myopia, or near-sightedness, is an ocular refractive error of unfocused image quality in front of the retinal plane. Individuals with high-grade myopia (dioptric power greater than -6.00) are predisposed to ocular morbidities such as glaucoma, retinal deta ... Full text Link to item Cite

Genetic screen of African Americans with Fuchs endothelial corneal dystrophy.

Journal article Mol Vis · 2013 Featured Publication PURPOSE: Fuchs endothelial corneal dystrophy (FECD) is a genetically heterogeneous disorder that has been primarily studied in patients of European or Asian ancestry. Given the sparse literature on African Americans with FECD, we sought to characterize the ... Link to item Cite

Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium.

Journal article Hum Genet · September 2012 Featured Publication Myopia is a complex genetic disorder and a common cause of visual impairment among working age adults. Genome-wide association studies have identified susceptibility loci on chromosomes 15q14 and 15q25 in Caucasian populations of European ancestry. Here, w ... Full text Link to item Cite

An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error.

Journal article Mol Vis · 2012 Featured Publication PURPOSE: To investigate quantitative trait loci linked to refractive error, we performed a genome-wide quantitative trait linkage analysis using single nucleotide polymorphism markers and family data from five international sites. METHODS: Genomic DNA samp ... Link to item Cite

Genetic variants on chromosome 1q41 influence ocular axial length and high myopia.

Journal article PLoS Genet · 2012 Featured Publication As one of the leading causes of visual impairment and blindness, myopia poses a significant public health burden in Asia. The primary determinant of myopia is an elongated ocular axial length (AL). Here we report a meta-analysis of three genome-wide associ ... Full text Link to item Cite

Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort.

Journal article Invest Ophthalmol Vis Sci · September 2010 Featured Publication PURPOSE: Evidence from human myopia genetic mapping studies (MYP3 locus), modulated animal models, and observations of glycemic control in humans suggests that insulin-like growth factor (IGF)-1 plays a role in the control of eye growth. This study was con ... Full text Link to item Cite

Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.

Journal article Hum Mol Genet · July 1, 2010 Featured Publication Optic nerve assessment is important for many blinding diseases, with cup-to-disc ratio (CDR) assessments commonly used in both diagnosis and progression monitoring of glaucoma patients. Optic disc, cup, rim area and CDR measurements all show substantial va ... Full text Link to item Cite

Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.

Journal article PLoS Genet · May 13, 2010 Featured Publication Central corneal thickness (CCT), one of the most highly heritable human traits (h(2) typically>0.9), is important for the diagnosis of glaucoma and a potential risk factor for glaucoma susceptibility. We conducted genome-wide association studies in five co ... Full text Open Access Link to item Cite

Hepatocyte growth factor and retinal arteriolar diameter in Singapore Chinese.

Journal article Ophthalmology · May 2010 Featured Publication OBJECTIVE: To assess if natural genetic variation in hepatocyte growth factor (HGF) is associated with altered retinal vessel diameter. DESIGN: Two-stage cohort study. PARTICIPANTS AND CONTROLS: Discovery set (set 1, n = 682 children) and confirmatory set ... Full text Link to item Cite

Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays.

Journal article Nucleic Acids Res · May 2010 Featured Publication Determination of copy number variants (CNVs) inferred in genome wide single nucleotide polymorphism arrays has shown increasing utility in genetic variant disease associations. Several CNV detection methods are available, but differences in CNV call thresh ... Full text Open Access Link to item Cite

Genome-wide linkage analysis of quantitative biomarker traits of osteoarthritis in a large, multigenerational extended family.

Journal article Arthritis Rheum · March 2010 Featured Publication OBJECTIVE: The genetic contributions to the multifactorial disorder osteoarthritis (OA) have been increasingly recognized. The goal of the current study was to use OA-related biomarkers of severity and disease burden as quantitative traits to identify gene ... Full text Link to item Cite

Factors influencing dietary protein sources in the PREMIER trial population.

Journal article J Am Diet Assoc · February 2010 Featured Publication Previous research suggests that protein intake, particularly plant protein, may benefit blood pressure control. However, very little has been published regarding protein sources in diets of US adults and factors influencing these choices. The purpose of th ... Full text Link to item Cite

Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.

Journal article Am J Hum Genet · January 2010 Featured Publication Fuchs corneal dystrophy (FCD) is a degenerative genetic disorder of the corneal endothelium that represents one of the most common causes of corneal transplantation in the United States. Despite its high prevalence (4% over the age of 40), the underlying g ... Full text Link to item Cite

COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus.

Journal article Invest Ophthalmol Vis Sci · September 2009 Featured Publication PURPOSE: Collagen involvement in myopia development via scleral remodeling is well-known. Recently, COL1A1 and COL2A1 gene polymorphisms were reported to be associated with high-grade and common myopia, respectively. This study was conducted to investigate ... Full text Link to item Cite

A regression-based association test for case-control studies that uses inferred ancestral haplotype similarity.

Journal article Ann Hum Genet · September 2009 Featured Publication Association methods based on haplotype similarity (HS) can overcome power and stability issues encountered in standard haplotype analyses. Current HS methods can be generally classified into evolutionary and two-sample approaches. We propose a new regressi ... Full text Link to item Cite

An international collaborative family-based whole-genome linkage scan for high-grade myopia.

Journal article Invest Ophthalmol Vis Sci · July 2009 Featured Publication PURPOSE: Several nonsyndromic high-grade myopia loci have been mapped primarily by microsatellite markers and a limited number of pedigrees. In this study, whole-genome linkage scans were performed for high-grade myopia, using single nucleotide polymorphis ... Full text Link to item Cite

Drawing inferences about the coancestry coefficient.

Journal article Theor Popul Biol · June 2009 Featured Publication The coancestry coefficient, also known as the population structure parameter, is of great interest in population genetics. It can be thought of as the intraclass correlation of pairs of alleles within populations and it can serve as a measure of genetic di ... Full text Link to item Cite

Hepatocyte growth factor and myopia: genetic association analyses in a Caucasian population.

Journal article Mol Vis · May 20, 2009 Featured Publication INTRODUCTION: Hepatocyte growth factor (HGF) and hepatocyte growth factor receptor (C-MET) genes have previously been reported to be associated with myopia in Asian family-based and case-control association studies, respectively. We examined whether these ... Link to item Cite

Association test for X-linked QTL in family-based designs.

Journal article Am J Hum Genet · April 2009 Featured Publication Family-based association methods for detecting quantitative trait loci (QTL) have been developed primarily for autosomes, and comparable methods for X-linked QTL have received less attention. We have developed a family-based association test for quantitati ... Full text Link to item Cite

Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies.

Journal article Invest Ophthalmol Vis Sci · April 2009 Featured Publication PURPOSE: X-linked high myopia with mild cone dysfunction and color vision defects has been mapped to chromosome Xq28 (MYP1 locus). CXorf2/TEX28 is a nested, intercalated gene within the red-green opsin cone pigment gene tandem array on Xq28. The authors in ... Full text Link to item Cite

Genome-wide linkage scan in fuchs endothelial corneal dystrophy.

Journal article Invest Ophthalmol Vis Sci · March 2009 Featured Publication PURPOSE: To perform a genome-wide linkage screen with a single-nucleotide polymorphism (SNP) linkage panel to identify regions of genetic linkage in Fuchs endothelial corneal dystrophy (FECD) and to analyze affected individuals for mutations in the COL8A2 ... Full text Link to item Cite

Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease.

Journal article Am J Hum Genet · January 2009 Featured Publication Only Apolipoprotein E polymorphisms have been consistently associated with the risk of late-onset Alzheimer disease (LOAD), but they represent only a minority of the underlying genetic effect. To identify additional LOAD risk loci, we performed a genome-wi ... Full text Link to item Cite

Characterization of cultured thymus tissue used for transplantation with emphasis on promiscuous expression of thyroid tissue-specific genes.

Journal article Immunol Res · 2009 Featured Publication Autoimmune thyroid disease occurs in some complete DiGeorge anomaly patients after thymus transplantation. This study was designed to assess the effect of culture of thymus tissue on the expression of genes involved in the development of autoimmunity. The ... Full text Link to item Cite

Myocilin polymorphisms and high myopia in subjects of European origin.

Journal article Mol Vis · 2009 Featured Publication PURPOSE: Three previous studies have tested for an association between high myopia and polymorphisms in the open angle glaucoma gene, myocilin (MYOC), all in subjects of Chinese ethnicity. In two of the studies, a significant association was found while in ... Link to item Cite

Inverse association of general joint hypermobility with hand and knee osteoarthritis and serum cartilage oligomeric matrix protein levels.

Journal article Arthritis Rheum · December 2008 Featured Publication OBJECTIVE: Extensive joint hypermobility, lower serum cartilage oligomeric matrix protein (COMP) levels, and early-onset osteoarthritis (OA) are phenotypes of inherited pseudoachondroplasia and multiple epiphyseal dysplasia. However, few studies have evalu ... Full text Link to item Cite

Biomarkers associated with clinical phenotypes of hand osteoarthritis in a large multigenerational family: the CARRIAGE family study.

Journal article Osteoarthritis Cartilage · September 2008 Featured Publication OBJECTIVE: To evaluate biological markers as potential quantitative traits of clinical osteoarthritis (OA) in a large multigenerational family in the Carolinas of the USA known as the CARRIAGE (CARolinas Region Interaction of Aging, Genes and Environment) ... Full text Link to item Cite

Factors affecting success of thymus transplantation for complete DiGeorge anomaly.

Journal article Am J Transplant · August 2008 Featured Publication Thymus transplantation shows promise for the treatment of athymia in complete DiGeorge anomaly. This report reviews the effects of dose of thymus tissue, ABO compatibility, HLA matching, culture conditions, age of donor and immunosuppression of recipient o ... Full text Link to item Cite

EMK: a novel program for family-based allelic and genotypic association tests on quantitative traits.

Journal article Ann Hum Genet · May 2008 Featured Publication The QTDT program is a widely-used program for analyzing quantitative trait data, but the methods mainly test allelic association. Since the genotype of a marker is a direct observation for an individual, it is of interest to assess association at the genot ... Full text Link to item Cite

X-LRT: a likelihood approach to estimate genetic risks and test association with X-linked markers using a case-parents design.

Journal article Genet Epidemiol · May 2008 Featured Publication Recently, there has been interest in family-based tests of association to identify X-chromosome genes. However, none of the approaches allow for estimation of genetic risks. We propose a likelihood approach to estimate disease-related marker relative risks ... Full text Link to item Cite

Use of allograft biopsies to assess thymopoiesis after thymus transplantation.

Journal article J Immunol · May 1, 2008 Featured Publication Thymus allograft biopsies were performed in athymic infants with complete DiGeorge anomaly after thymus transplantation to assess whether the thymus allograft tissue was able to support thymopoiesis. Forty-four consecutive infants were treated with postnat ... Full text Link to item Cite

Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia.

Journal article Mol Vis · March 4, 2008 Featured Publication PURPOSE: The membrane-type frizzled-related protein (MFRP) gene is selectively expressed in the retinal pigment epithelium and ciliary body, and mutations of this gene cause nanophthalmos. The MFRP gene may not be essential for retinal function but has bee ... Link to item Cite

Gene-gene interaction between FGF20 and MAOB in Parkinson disease.

Journal article Ann Hum Genet · March 2008 Featured Publication The fibroblast growth factor 20 (FGF20) and monoamine oxidase B (MAOB) genes are associated with Parkinson Disease (PD) risk and both are in the dopamine bio-pathway. Therefore, we investigated the joint effect between polymorphisms in the FGF20 and MAOB g ... Full text Link to item Cite

Long-term tolerance to allogeneic thymus transplants in complete DiGeorge anomaly.

Journal article Clin Immunol · March 2008 Featured Publication Thymus transplantation in subjects with complete DiGeorge anomaly using postnatal allogeneic HLA-nonmatched cultured thymus tissue provides immunoreconstitution. Tolerance of the newly developed T cells toward the donor thymus has not previously been studi ... Full text Link to item Cite

Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein.

Journal article Am J Hum Genet · February 2008 Featured Publication Parkinson disease (PD) is a common neurodegenerative disorder caused by environmental and genetic factors. We have previously shown linkage of PD to chromosome 8p. Subsequently, fibroblast growth factor 20 (FGF20) at 8p21.3-22 was identified as a risk fact ... Full text Link to item Cite

Methods for interaction analyses using family-based case-control data: conditional logistic regression versus generalized estimating equations.

Journal article Genet Epidemiol · December 2007 Featured Publication A complex web of gene-gene and gene-environment interactions likely underlies late-onset disease development. We compared conditional logistic regression (CLR) and generalized estimating equations (GEE) in modeling such interactions in pedigrees with missi ... Full text Link to item Cite

A SAGE study of apolipoprotein E3/3, E3/4 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease.

Journal article Mol Cell Neurosci · November 2007 Featured Publication APOE4 allele is a major risk factor for late-onset Alzheimer disease (AD). The mechanism of action of APOE in AD remains unclear. To study the effects of APOE alleles on gene expression in AD, we have analyzed the gene transcription patterns of human hippo ... Full text Link to item Cite

Investigation of the PARK10 gene in Parkinson disease.

Journal article Ann Hum Genet · September 2007 Featured Publication Two recent association mapping studies in Parkinson disease (PD) reported three candidate genes for the PARK10 locus: EIF2B3 as a modifier of age-at-onset of PD (min P= 0.0004) and HIVEP3 as a PD risk gene (P < or = 0.006) (Oliveira et al. 2005); and LOC20 ... Full text Link to item Cite

X-APL: an improved family-based test of association in the presence of linkage for the X chromosome.

Journal article Am J Hum Genet · January 2007 Featured Publication Family-based association methods have been developed primarily for autosomal markers. The X-linked sibling transmission/disequilibrium test (XS-TDT) and the reconstruction-combined TDT for X-chromosome markers (XRC-TDT) are the first association-based meth ... Full text Link to item Cite

Family-based case-control study of MAOA and MAOB polymorphisms in Parkinson disease.

Journal article Mov Disord · December 2006 Featured Publication Monoamine oxidase (MAO) is an enzyme regulating metabolism of neurotransmitters such as dopamine. Two distinct forms of enzyme, encoded by genes MAOA and MAOB located on the X chromosome, have been considered as possible factors in the pathogenesis of Park ... Full text Link to item Cite

Ocular abnormalities in Apert syndrome: genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations.

Journal article J AAPOS · December 2006 Featured Publication BACKGROUND/PURPOSE: Apert syndrome, a disorder of craniosynostosis, syndactyly, and other craniofacial malformations, is caused by point mutations (Ser252Trp or Pro253Arg) in the fibroblast growth factor receptor 2 gene. This study's goal was to determine ... Full text Link to item Cite

NOS2A and the modulating effect of cigarette smoking in Parkinson's disease.

Journal article Ann Neurol · September 2006 Featured Publication OBJECTIVE: Inducible nitric oxide synthase, a protein product of NOS2A, generates nitric oxide as a defense mechanism, but excessive levels threaten cellular survival. NOS2A is a candidate gene for Parkinson's disease (PD) that potentially interacts with c ... Full text Link to item Cite

Genetic association tests based on ranks (GATOR) for quantitative traits with and without censoring.

Journal article Genet Epidemiol · April 2006 Featured Publication Linkage disequilibrium mapping of quantitative traits is a powerful method for dissecting the genetic etiology of complex phenotypes. Quantitative traits, however, often exhibit characteristics that make their use problematic. For example, the distribution ... Full text Link to item Cite

Differences in apolipoprotein E3/3 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease.

Journal article Neurobiol Dis · February 2006 Featured Publication Apolipoprotein E4 (APOE4) allele is a major risk factor for late-onset familial and sporadic Alzheimer disease (AD). The mechanism of action of APOE in the etiology of AD remains unclear. Using gene expression (microarray) analysis of human hippocampus fro ... Full text Link to item Cite

Application of a rank-based genetic association test to age-at-onset data from the Collaborative Study on the Genetics of Alcoholism study.

Journal article BMC Genet · December 30, 2005 Featured Publication Association studies of quantitative traits have often relied on methods in which a normal distribution of the trait is assumed. However, quantitative phenotypes from complex human diseases are often censored, highly skewed, or contaminated with outlying va ... Full text Open Access Link to item Cite

Interaction between the alpha-T catenin gene (VR22) and APOE in Alzheimer's disease.

Journal article J Med Genet · October 2005 Featured Publication BACKGROUND: APOE is the only gene that has been consistently replicated as a risk factor for late onset Alzheimer's disease. Several recent studies have identified linkage to chromosome 10 for both risk and age of onset, suggesting that this region harbour ... Full text Link to item Cite

Genomic convergence to identify candidate genes for Parkinson disease: SAGE analysis of the substantia nigra.

Journal article Mov Disord · October 2005 Featured Publication Genomic convergence is a multistep approach that combines gene expression with genomic linkage to identify and prioritize susceptibility genes for complex disease. As a first step, we previously performed linkage analysis on 174 multiplex Parkinson's disea ... Full text Link to item Cite

Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease.

Journal article Am J Hum Genet · August 2005 Featured Publication We previously reported a linkage region on chromosome 1p (LOD = 3.41) for genes controlling age at onset (AAO) in Parkinson disease (PD). This region overlaps with the previously reported PARK10 locus. To identify the gene(s) associated with AAO and risk o ... Full text Link to item Cite

Expression profiling of substantia nigra in Parkinson disease, progressive supranuclear palsy, and frontotemporal dementia with parkinsonism.

Journal article Arch Neurol · June 2005 Featured Publication BACKGROUND: Parkinson disease (PD) is characterized by loss of dopaminergic neurons in the substantia nigra. Genes contributing to rare mendelian forms of PD have been identified, but the genes involved in the more common idiopathic PD are not well underst ... Full text Link to item Cite

Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease.

Journal article Hum Genet · June 2005 Featured Publication Inflammatory processes have been implicated in the cascade of events that lead to nerve cell death. In the nervous system, a number of genes involved in inflammation pathways are regulated post-transcriptionally via the interaction of their mRNAs with spec ... Full text Link to item Cite

Linkage disequilibrium inflates type I error rates in multipoint linkage analysis when parental genotypes are missing.

Journal article Hum Hered · 2005 Featured Publication OBJECTIVES: Describe the inflation in nonparametric multipoint LOD scores due to inter-marker linkage disequilibrium (LD) across many markers with varied allele frequencies. METHOD: Using simulated two-generation families with and without parents, we condu ... Full text Link to item Cite

Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis.

Journal article Neurogenetics · December 2004 Featured Publication Apolipoprotein E (APOE) is a confirmed risk factor for Alzheimer disease. APOE is also involved in several other neurodegenerative disorders, including Parkinson disease and multiple sclerosis. Previous studies of amyotrophic lateral sclerosis (Lou Gehrig ... Full text Link to item Cite

Articular hypermobility is a protective factor for hand osteoarthritis.

Journal article Arthritis Rheum · July 2004 Featured Publication OBJECTIVE: Very few studies have evaluated the association of articular hypermobility and radiographic osteoarthritis (OA) in humans. We assessed hypermobility and its relationship to radiographic hand OA in a family-based study. METHODS: A total of 1,043 ... Full text Link to item Cite

Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease.

Journal article Hum Mol Genet · December 15, 2003 Featured Publication We previously reported genetic linkage of loci controlling age-at-onset in Alzheimer disease (AD) and Parkinson's disease (PD) to a 15 cM region on chromosome 10q. Given the large number of genes in this initial starting region, we applied the process of ' ... Full text Link to item Cite

Genomic convergence: identifying candidate genes for Parkinson's disease by combining serial analysis of gene expression and genetic linkage.

Journal article Hum Mol Genet · March 15, 2003 Featured Publication We present a multifactorial, multistep approach called genomic convergence that combines gene expression with genomic linkage analysis to identify and prioritize candidate susceptibility genes for Parkinson's disease (PD). To initiate this process, we used ... Link to item Cite

Phylogenetic analysis of vertebrate lactate dehydrogenase (LDH) multigene families.

Journal article J Mol Evol · May 2002 Featured Publication In this paper we analyzed 49 lactate dehydrogenase (LDH) sequences, mostly from vertebrates. The amino acid sequence differences were found to be larger for a human-killifish pair than a human-lamprey pair. This indicates that some protein sequence converg ... Full text Link to item Cite

Age at onset in two common neurodegenerative diseases is genetically controlled.

Journal article Am J Hum Genet · April 2002 Featured Publication To identify genes influencing age at onset (AAO) in two common neurodegenerative diseases, a genomic screen was performed for AAO in families with Alzheimer disease (AD; n=449) and Parkinson disease (PD; n=174). Heritabilities between 40%--60% were found i ... Full text Link to item Cite

Paleo-demography of the Drosophila melanogaster subgroup: application of the maximum likelihood method.

Journal article Genes Genet Syst · August 1999 Featured Publication The species divergence times and demographic histories of Drosophila melanogaster and its three sibling species, D. mauritiana, D. simulans, and D. yakuba, were investigated using a maximum likelihood (ML) method. Thirty-nine orthologous loci for these fou ... Full text Link to item Cite

Molecular clock and recombination in primate Mhc genes.

Journal article Immunol Rev · February 1999 Featured Publication To set an accurate chronological framework to the evolution of primate class I and II genes in the major histocompatibility complex (Mhc), the rate of silent nucleotide substitutions in exons and introns is examined for various cDNA and genome sequences cu ... Full text Link to item Cite

The neutral theory and natural selection in the HLA region.

Journal article Front Biosci · April 27, 1998 Featured Publication Based on available DNA sequence data in the HLA region of 4 Mb, we review the degree of polymorphism at 39 loci of which most are involved in the immune system. The extent of nucleotide differences per silent site differs greatly from locus to locus. It is ... Full text Link to item Cite