Resetting the bar: Statistical significance in whole-genome sequencing-based association studies of global populations

The (in)famous GWAS P-value threshold revisited and updated for low-frequency variants

(2016) João Fadista et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Empirical estimation of genome-wide significance thresholds based on the 1000 Genomes Project data set

(2016) Masahiro Kanai et al.   JOURNAL OF HUMAN GENETICS

Weighting sequence variants based on their annotation increases power of whole-genome association studies

(2016) Gardar Sveinbjornsson et al.   NATURE GENETICS

Addressing Population-Specific Multiple Testing Burdens in Genetic Association Studies

(2015) Rafal S. Sobota et al.   ANNALS OF HUMAN GENETICS

The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity

(2015) Dominik G. Grimm et al.   HUMAN MUTATION

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Successful test launch for nanopore sequencing

(2015) Nicholas J Loman et al.   NATURE METHODS

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

(2015) Christopher C Chang et al.   GigaScience

Rare-Variant Association Analysis: Study Designs and Statistical Tests

(2014) Seunggeung Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Estimating Genome-Wide Significance for Whole-Genome Sequencing Studies

(2014) ChangJiang Xu et al.   GENETIC EPIDEMIOLOGY

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Technology: The $1,000 genome

(2014) Erika Check Hayden   NATURE

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

(2014) Ron Do et al.   NATURE

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

(2014) Laurent C Francioli et al.   NATURE GENETICS

Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes

(2014) Valgerdur Steinthorsdottir et al.   NATURE GENETICS

Association Claims in the Sequencing Era

(2014) Sara Pulit et al.   Genes

Research ethics: 3 ways to blow the whistle

(2013) Ed Yong et al.   NATURE

Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease

(2013) Jacob Gratten et al.   NATURE GENETICS

Raising standards

(2013)   NATURE NEUROSCIENCE

Sequencing studies in human genetics: design and interpretation

(2013) David B. Goldstein et al.   NATURE REVIEWS GENETICS

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

(2013) Danielle Welter et al.   NUCLEIC ACIDS RESEARCH

Genotype calling and phasing using next-generation sequencing reads and a haplotype scaffold

(2012) Androniki Menelaou et al.   BIOINFORMATICS

The time is right to confront misconduct

(2012) Colin Macilwain   NATURE

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

(2012)   NATURE

Exome sequencing and the genetic basis of complex traits

(2012) Adam Kiezun et al.   NATURE GENETICS

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

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

HAPGEN2: simulation of multiple disease SNPs

(2011) Zhan Su et al.   BIOINFORMATICS

Identification of low-frequency variants associated with gout and serum uric acid levels

(2011) Patrick Sulem et al.   NATURE GENETICS

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

(2011) Mark A DePristo et al.   NATURE GENETICS

The functional spectrum of low-frequency coding variation

(2011) Gabor T Marth et al.   GENOME BIOLOGY

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

(2010) A. McKenna et al.   GENOME RESEARCH

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

Genome-wide association studies in diverse populations

(2010) Noah A. Rosenberg et al.   NATURE REVIEWS GENETICS

Multiethnic Genetic Association Studies Improve Power for Locus Discovery

(2010) Sara L. Pulit 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

African Genetic Diversity: Implications for Human Demographic History, Modern Human Origins, and Complex Disease Mapping

(2008) Michael C. Campbell et al.   Annual Review of Genomics and Human Genetics

Estimation of significance thresholds for genomewide association scans

(2008) Frank Dudbridge et al.   GENETIC EPIDEMIOLOGY

Estimation of the multiple testing burden for genomewide association studies of nearly all common variants

(2008) Itsik Pe'er et al.   GENETIC EPIDEMIOLOGY