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

The UK10K project identifies rare variants in health and disease

(2015)   NATURE

Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease

(2015) Alexander H Li et al.   NATURE GENETICS

Using population isolates in genetic association studies

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

Efficient multivariate linear mixed model algorithms for genome-wide association studies

(2014) Xiang Zhou et al.   NATURE METHODS

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

(2014)   NEW ENGLAND JOURNAL OF MEDICINE

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

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

(2014) Nicholas J. Timpson et al.   Nature Communications

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

(2014) Kalliope Panoutsopoulou et al.   Nature Communications

Antisense Oligonucleotide Inhibition of Apolipoprotein C-III Reduces Plasma Triglycerides in Rodents, Nonhuman Primates, and Humans

(2013) Mark J. Graham et al.   CIRCULATION RESEARCH

Discovery and refinement of loci associated with lipid levels

(2013) Cristen J Willer et al.   NATURE GENETICS

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

(2013) Ioanna Tachmazidou et al.   Nature Communications

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

(2012)   NATURE

The UK Adult Twin Registry (TwinsUK Resource)

(2012) Alireza Moayyeri et al.   Twin Research and Human Genetics

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

(2011) Michael C. Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Genotype Imputation with Thousands of Genomes

(2011) Bryan Howie et al.   G3-Genes Genomes Genetics

Association between genetic variation at the APO AI-CIII-AIV gene cluster and familial combined hyperlipidaemia

(2010) Chun-Fang Xu et al.   CLINICAL GENETICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

Biological, clinical and population relevance of 95 loci for blood lipids

(2010) Tanya M. Teslovich et al.   NATURE

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies

(2009) Bryan N. Howie et al.   PLoS Genetics

Apolipoprotein CIII and Atherosclerosis

(2008) Alex Bobik   CIRCULATION

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

(2008) T. I. Pollin et al.   SCIENCE