An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People

fastsimcoal: a continuous-time coalescent simulator of genomic diversity under arbitrarily complex evolutionary scenarios

(2011) Laurent Excoffier et al.   BIOINFORMATICS

GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease

(2011) Bradley E Aouizerat et al.   BMC Cardiovascular Disorders

The GENCODE exome: sequencing the complete human exome

(2011) Alison J Coffey et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genomics for the world

(2011) Carlos D. Bustamante et al.   NATURE

Variation in genome-wide mutation rates within and between human families

(2011) Donald F Conrad et al.   NATURE GENETICS

How informative is a negative finding in a small pharmacogenetic study?

(2011) S-A Bacanu et al.   PHARMACOGENOMICS JOURNAL

Demographic history and rare allele sharing among human populations

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The Emergence of Genome-Based Drug Repositioning

(2011) Y. A. Lussier et al.   Science Translational Medicine

Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data

(2011) Joanne H Wang et al.   Genome Medicine

Genome-Wide Association Study of Coronary Heart Disease and Its Risk Factors in 8,090 African Americans: The NHLBI CARe Project

(2011) Guillaume Lettre et al.   PLoS Genetics

The functional spectrum of low-frequency coding variation

(2011) Gabor T Marth et al.   GENOME BIOLOGY

Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes

(2010) Erin L. Heinzen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts

(2010) Philip Awadalla et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pooled Association Tests for Rare Variants in Exon-Resequencing Studies

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Rare Variant Association Analysis Methods for Complex Traits

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Genome-Wide Association Scan of Trait Depression

(2010) Antonio Terracciano et al.   BIOLOGICAL PSYCHIATRY

Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study

(2010) Dalia Kasperavičiūtė et al.   BRAIN

Loss-of-function variants in the genomes of healthy humans

(2010) D. G. MacArthur et al.   HUMAN MOLECULAR GENETICS

Lack of Association Between the Trp719Arg Polymorphism in Kinesin-Like Protein-6 and Coronary Artery Disease in 19 Case-Control Studies

(2010) Themistocles L. Assimes et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Variants in FAM13A are associated with chronic obstructive pulmonary disease

(2010) Michael H Cho et al.   NATURE GENETICS

Missing heritability and strategies for finding the underlying causes of complex disease

(2010) Evan E. Eichler et al.   NATURE REVIEWS GENETICS

The Mouse Genome Database (MGD): premier model organism resource for mammalian genomics and genetics

(2010) J. A. Blake et al.   NUCLEIC ACIDS RESEARCH

A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder

(2010) Ke-Sheng Wang et al.   SCHIZOPHRENIA RESEARCH

Deep resequencing reveals excess rare recent variants consistent with explosive population growth

(2010) Alex Coventry et al.   Nature Communications

Modification of Multiple Sclerosis Phenotypes by African Ancestry at HLA

(2009) Bruce A. C. Cree et al.   ARCHIVES OF NEUROLOGY

Genetic association of the major histocompatibility complex with rheumatoid arthritis implicates two non-DRB1 loci

(2009) Charlotte Vignal et al.   ARTHRITIS AND RHEUMATISM

The PsyCoLaus study: methodology and characteristics of the sample of a population-based survey on psychiatric disorders and their association with genetic and cardiovascular risk factors

(2009) Martin Preisig et al.   BMC Psychiatry

Measuring the Rates of Spontaneous Mutation From Deep and Large-Scale Polymorphism Data

(2009) Philipp W. Messer   GENETICS

SNP detection for massively parallel whole-genome resequencing

(2009) R. Li et al.   GENOME RESEARCH

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20

(2009) Melanie Bahlo et al.   NATURE GENETICS

Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci

(2009) Philip L De Jager et al.   NATURE GENETICS

Genome-wide Linkage and Association Analyses to Identify Genes Influencing Adiponectin Levels: The GEMS Stud

(2009) Hua Ling et al.   Obesity

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

(2009) L. A. Hindorff et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Genome-Wide Association Study in Chronic Obstructive Pulmonary Disease (COPD): Identification of Two Major Susceptibility Loci

(2009) Sreekumar G. Pillai et al.   PLoS Genetics

Estimating the Single Nucleotide Polymorphism Genotype Misclassification From Routine Double Measurements in a Large Epidemiologic Sample

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The Population Reference Sample, POPRES: A Resource for Population, Disease, and Pharmacological Genetics Research

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ADZE: a rarefaction approach for counting alleles private to combinations of populations

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SOAP: short oligonucleotide alignment program

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The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome

(2008) Mathieu Firmann et al.   BMC Cardiovascular Disorders

Correlation between Genetic and Geographic Structure in Europe

(2008) Oscar Lao et al.   CURRENT BIOLOGY

Natural Selection on Genes that Underlie Human Disease Susceptibility

(2008) Ran Blekhman et al.   CURRENT BIOLOGY

Evaluation of COPD Longitudinally to Identify Predictive Surrogate End-points (ECLIPSE)

(2008) J. Vestbo et al.   EUROPEAN RESPIRATORY JOURNAL

Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis

(2008) Sergio E. Baranzini et al.   HUMAN MOLECULAR GENETICS

Population-based linkage analysis of schizophrenia and bipolar case–control cohorts identifies a potential susceptibility locus on 19q13

(2008) C Francks et al.   MOLECULAR PSYCHIATRY

Genome-wide association study of recurrent major depressive disorder in two European case–control cohorts

(2008) P Muglia et al.   MOLECULAR PSYCHIATRY

Genomewide association for schizophrenia in the CATIE study: results of stage 1

(2008) P F Sullivan et al.   MOLECULAR PSYCHIATRY

Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides

(2008) Jaspal S Kooner et al.   NATURE GENETICS

InterPro: the integrative protein signature database

(2008) S. Hunter et al.   NUCLEIC ACIDS RESEARCH

Genome-Wide Analysis of Single Nucleotide Polymorphisms Uncovers Population Structure in Northern Europe

(2008) Elina Salmela et al.   PLoS One

Candidate Single-Nucleotide Polymorphisms From a Genomewide Association Study of Alzheimer Disease

(2007) Hao Li et al.   ARCHIVES OF NEUROLOGY