Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

An efficient and scalable analysis framework for variant extraction and refinement from population-scale DNA sequence data

(2015) Goo Jun et al.   GENOME RESEARCH

Whole-genome sequence-based analysis of thyroid function

(2015) Peter N. Taylor et al.   Nature Communications

Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs

(2014) Giorgio Pistis et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Estimating Genome-Wide Significance for Whole-Genome Sequencing Studies

(2014) ChangJiang Xu et al.   GENETIC EPIDEMIOLOGY

Association of exome sequences with plasma C-reactive protein levels in >9000 participants

(2014) Ursula M. Schick et al.   HUMAN MOLECULAR GENETICS

A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes

(2014) Ida Moltke et al.   NATURE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Whole-genome sequence variation, population structure and demographic history of the Dutch population

(2014) Laurent C Francioli et al.   NATURE GENETICS

Searching for missing heritability: Designing rare variant association studies

(2014) O. Zuk et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Demography and the Age of Rare Variants

(2014) Iain Mathieson et al.   PLoS Genetics

Genetic Variants Regulating Immune Cell Levels in Health and Disease

(2013) Valeria Orrù et al.   CELL

Common variants associated with plasma triglycerides and risk for coronary artery disease

(2013) Ron Do et al.   NATURE GENETICS

Discovery and refinement of loci associated with lipid levels

(2013) Cristen J Willer et al.   NATURE GENETICS

Genetic insights into common pathways and complex relationships among immune-mediated diseases

(2013) Miles Parkes et al.   NATURE REVIEWS GENETICS

Low-Pass DNA Sequencing of 1200 Sardinians Reconstructs European Y-Chromosome Phylogeny

(2013) P. Francalacci et al.   SCIENCE

Using Extended Genealogy to Estimate Components of Heritability for 23 Quantitative and Dichotomous Traits

(2013) Noah Zaitlen et al.   PLoS Genetics

Detecting and Estimating Contamination of Human DNA Samples in Sequencing and Array-Based Genotype Data

(2012) Goo Jun et al.   AMERICAN JOURNAL OF HUMAN GENETICS

zCall: a rare variant caller for array-based genotyping

(2012) Jacqueline I. Goldstein et al.   BIOINFORMATICS

Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity

(2012) Tõnu Esko et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genotype calling and haplotyping in parent-offspring trios

(2012) W. Chen et al.   GENOME RESEARCH

Exome sequencing and complex disease: practical aspects of rare variant association studies

(2012) R. Do et al.   HUMAN MOLECULAR GENETICS

Genetic Variant onPDGFRLAssociated with Behçet Disease in Chinese Han Populations

(2012) Shengping Hou et al.   HUMAN MUTATION

Cohort Profile: TwinsUK and Healthy Ageing Twin Study

(2012) A. Moayyeri et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

(2012) Bryan Howie et al.   NATURE GENETICS

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

(2012) M. R. Nelson et al.   SCIENCE

A Genome-Wide Association Scan on the Levels of Markers of Inflammation in Sardinians Reveals Associations That Underpin Its Complex Regulation

(2012) Silvia Naitza et al.   PLoS Genetics

The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits

(2012) Benjamin F. Voight et al.   PLoS Genetics

Complement Receptor 1 Gene Variants Are Associated with Erythrocyte Sedimentation Rate

(2011) Iftikhar J. Kullo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Low-coverage sequencing: Implications for design of complex trait association studies

(2011) Y. Li et al.   GENOME RESEARCH

Demographic history and rare allele sharing among human populations

(2011) S. Gravel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Fine Mapping of Five Loci Associated with Low-Density Lipoprotein Cholesterol Detects Variants That Double the Explained Heritability

(2011) Serena Sanna et al.   PLoS Genetics

Pooled Association Tests for Rare Variants in Exon-Resequencing Studies

(2010) Alkes L. Price et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Convergence and prediction of principal component scores in high-dimensional settings

(2010) Seunggeun Lee et al.   ANNALS OF STATISTICS

LocusZoom: regional visualization of genome-wide association scan results

(2010) R. J. Pruim et al.   BIOINFORMATICS

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

METAL: fast and efficient meta-analysis of genomewide association scans

(2010) C. J. Willer et al.   BIOINFORMATICS

MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes

(2010) Yun Li et al.   GENETIC EPIDEMIOLOGY

Beta-thalassemia

(2010) Antonio Cao et al.   GENETICS IN MEDICINE

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

(2010) Serena Sanna et al.   NATURE GENETICS

Variance component model to account for sample structure in genome-wide association studies

(2010) Hyun Min Kang et al.   NATURE GENETICS

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration

(2010) W. Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genotype Imputation

(2009) Yun Li et al.   Annual Review of Genomics and Human Genetics

Apolipoprotein E genotype is associated with serum C-reactive protein but not abdominal aortic aneurysm

(2009) Jonathan Golledge et al.   ATHEROSCLEROSIS

Heritability and Demographic Analyses in the Large Isolated Population of Val Borbera Suggest Advantages in Mapping Complex Traits Genes

(2009) Michela Traglia et al.   PLoS One

Power of deep, all-exon resequencing for discovery of human trait genes

(2009) G. V. Kryukov et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2008) Matthew R. Nelson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data

(2008) Bingshan Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An integrative approach to characterize disease-specific pathways and their coordination: a case study in cancer

(2008) Min Xu et al.   BMC GENOMICS

Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia

(2008) M Zoledziewska et al.   GENES AND IMMUNITY

Genes mirror geography within Europe

(2008) John Novembre et al.   NATURE

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

(2008) Cristen J Willer et al.   NATURE GENETICS

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

(2008) Mark I. McCarthy et al.   NATURE REVIEWS GENETICS

Discerning the Ancestry of European Americans in Genetic Association Studies

(2008) Alkes L. Price et al.   PLoS Genetics

Mapping the Genetic Architecture of Gene Expression in Human Liver

(2008) Eric E Schadt et al.   PLOS BIOLOGY