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

Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline

(2014) Jeffrey G Reid et al.   BMC BIOINFORMATICS

Risk of Type 1 Diabetes Progression in Islet Autoantibody-Positive Children Can Be Further Stratified Using Expression Patterns of Multiple Genes Implicated in Peripheral Blood Lymphocyte Activation and Function

(2014) Y. Jin et al.   DIABETES

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

(2014)   NEW ENGLAND JOURNAL OF MEDICINE

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

(2013) Xiaoming Liu et al.   HUMAN MUTATION

Phase 3 data for PCSK9 inhibitor wows

(2013) Cormac Sheridan   NATURE BIOTECHNOLOGY

Whole-genome sequence–based analysis of high-density lipoprotein cholesterol

(2013) Alanna C Morrison et al.   NATURE GENETICS

Best Practices and Joint Calling of the HumanExome BeadChip: The CHARGE Consortium

(2013) Megan L. Grove et al.   PLoS One

From Mouse to Human: Evolutionary Genomics Analysis of Human Orthologs of Essential Genes

(2013) Benjamin Georgi et al.   PLoS Genetics

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

An integrative variant analysis suite for whole exome next-generation sequencing data

(2012) Danny Challis et al.   BMC BIOINFORMATICS

The ConsensusPathDB interaction database: 2013 update

(2012) Atanas Kamburov et al.   NUCLEIC ACIDS RESEARCH

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

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

CTRP family: linking immunity to metabolism

(2012) Andreas Schäffler et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

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

(2010) Heng Li et al.   BIOINFORMATICS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Linkage scan of nicotine dependence in the University of California, San Francisco (UCSF) Family Alcoholism Study

(2010) I. R. Gizer et al.   PSYCHOLOGICAL MEDICINE

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

Identification of human haploinsufficient genes and their genomic proximity to segmental duplications

(2008) Vinh T Dang et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Flavin-containing monooxygenases: mutations, disease and drug response

(2008) I PHILLIPS et al.   TRENDS IN PHARMACOLOGICAL SCIENCES