Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits

Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

(2018) Pradeep Natarajan et al.   Nature Communications

Ensembl 2018

(2017) Daniel R Zerbino et al.   NUCLEIC ACIDS RESEARCH

Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits

(2017) Lorraine Southam et al.   Nature Communications

Very low-depth sequencing in a founder population identifies a cardioprotectiveAPOC3signal missed by genome-wide imputation

(2016) Arthur Gilly et al.   HUMAN MOLECULAR GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

A spectral approach integrating functional genomic annotations for coding and noncoding variants

(2016) Iuliana Ionita-Laza et al.   NATURE GENETICS

The mountainous Cretan dietary patterns and their relationship with cardiovascular risk factors: the Hellenic Isolated Cohorts MANOLIS study

(2016) Aliki-Eleni Farmaki et al.   PUBLIC HEALTH NUTRITION

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

(2016) Frederick E. Dewey et al.   SCIENCE

hapbin: An Efficient Program for Performing Haplotype-Based Scans for Positive Selection in Large Genomic Datasets: Fig. 1.

(2015) Colin A. Maclean et al.   MOLECULAR BIOLOGY AND EVOLUTION

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Large-scale whole-genome sequencing of the Icelandic population

(2015) Daniel F Gudbjartsson et al.   NATURE GENETICS

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

(2015) et al.   SCIENCE

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

Using population isolates in genetic association studies

(2014) K. Hatzikotoulas et al.   Briefings in Functional Genomics

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

(2014) Martin Kircher et al.   NATURE GENETICS

Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease

(2014)   NEW ENGLAND JOURNAL OF MEDICINE

The INTERVAL trial to determine whether intervals between blood donations can be safely and acceptably decreased to optimise blood supply: study protocol for a randomised controlled trial

(2014) Carmel Moore et al.   Trials

Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants

(2014) Kalliope Panoutsopoulou et al.   Nature Communications

Comparison of Methods to Account for Relatedness in Genome-Wide Association Studies with Family-Based Data

(2014) Jakris Eu-ahsunthornwattana et al.   PLoS Genetics

Ectopic Overexpression of COTE1 Promotes Cellular Invasion of Hepatocellular Carcinoma

(2013) Hai Zhang et al.   Asian Pacific Journal of Cancer Prevention

Robust Rare Variant Association Testing for Quantitative Traits in Samples With Related Individuals

(2013) Duo Jiang et al.   GENETIC EPIDEMIOLOGY

Estimating and interpreting FST: The impact of rare variants

(2013) G. Bhatia et al.   GENOME RESEARCH

dbPSHP: a database of recent positive selection across human populations

(2013) Mulin Jun Li et al.   NUCLEIC ACIDS RESEARCH

The mid p-value in exact tests for Hardy-Weinberg equilibrium

(2013) Jan Graffelman et al.   Statistical Applications in Genetics and Molecular Biology

A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates

(2013) Ioanna Tachmazidou et al.   Nature Communications

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

Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies

(2012) Seunggeun Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome-wide efficient mixed-model analysis for association studies

(2012) Xiang Zhou et al.   NATURE GENETICS

Fast Computation and Applications of Genome Mappability

(2012) Thomas Derrien et al.   PLoS One

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Robust relationship inference in genome-wide association studies

(2010) Ani Manichaikul et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

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

(2010) Hyun Min Kang et al.   NATURE GENETICS

Signals of recent positive selection in a worldwide sample of human populations

(2009) J. K. Pickrell et al.   GENOME RESEARCH

Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia

(2009) Serena Sanna et al.   HUMAN MOLECULAR GENETICS

A Null Mutation in Human APOC3 Confers a Favorable Plasma Lipid Profile and Apparent Cardioprotection

(2008) T. I. Pollin et al.   SCIENCE