Association Claims in the Sequencing Era

Whole-Exome Sequencing of 2,000 Danish Individuals and the Role of Rare Coding Variants in Type 2 Diabetes

(2013) Kirk E. Lohmueller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Inference of the Genetic Architecture Underlying BMI and Height with the Use of 20,240 Sibling Pairs

(2013) Gibran Hemani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The History and Practice of Peer Review

(2013) Francis H. Chapelle   Groundwater

In search of low-frequency and rare variants affecting complex traits

(2013) K. Panoutsopoulou et al.   HUMAN MOLECULAR GENETICS

Exome Sequencing Identified NRG3 as a Novel Susceptible Gene of Hirschsprung’s Disease in a Chinese Population

(2013) Jun Yang et al.   MOLECULAR NEUROBIOLOGY

Evidence for the role of EPHX2 gene variants in anorexia nervosa

(2013) A A Scott-Van Zeeland et al.   MOLECULAR PSYCHIATRY

Research ethics: 3 ways to blow the whistle

(2013) Ed Yong et al.   NATURE

Policy: Twenty tips for interpreting scientific claims

(2013) William J. Sutherland et al.   NATURE

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease

(2013) Carlos Cruchaga et al.   NATURE

Open access: The true cost of science publishing

(2013) Richard Van Noorden   NATURE

Dysfunctional nitric oxide signalling increases risk of myocardial infarction

(2013) Jeanette Erdmann et al.   NATURE

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

(2013) Jason Flannick et al.   NATURE GENETICS

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

(2013) Jacob Gratten et al.   NATURE GENETICS

Error bars

(2013) Martin Krzywinski et al.   NATURE METHODS

Power and sample size

(2013) Martin Krzywinski et al.   NATURE METHODS

Points of significance: Importance of being uncertain

(2013) Martin Krzywinski et al.   NATURE METHODS

Significance, P values and t-tests

(2013) Martin Krzywinski et al.   NATURE METHODS

Raising standards

(2013)   NATURE NEUROSCIENCE

Exome sequencing to identify de novo mutations in sporadic ALS trios

(2013) Alessandra Chesi et al.   NATURE NEUROSCIENCE

Who's Afraid of Peer Review?

(2013) John Bohannon   SCIENCE

Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls

(2013) Li Liu et al.   PLoS Genetics

Five Years of GWAS Discovery

(2012) Peter M. Visscher et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Scientific Misconduct: More Cops, More Robbers?

(2012) Colin Macilwain   CELL

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

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

The time is right to confront misconduct

(2012) Colin Macilwain   NATURE

Misconduct is the main cause of life-sciences retractions

(2012) Zoë Corbyn   NATURE

The roots of research misconduct

(2012) William Neaves   NATURE

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

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

(2012)   NATURE

Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis

(2012) Eli A Stahl et al.   NATURE GENETICS

Exome sequencing and the genetic basis of complex traits

(2012) Adam Kiezun et al.   NATURE GENETICS

Differential confounding of rare and common variants in spatially structured populations

(2012) Iain Mathieson et al.   NATURE GENETICS

Exome sequencing identifies a novel multiple sclerosis susceptibility variant in the TYK2 gene

(2012) D. A. Dyment et al.   NEUROLOGY

Misconduct accounts for the majority of retracted scientific publications

(2012) F. C. Fang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Retraction

(2011) P. Sebastiani et al.   SCIENCE

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

(2010) A. McKenna et al.   GENOME RESEARCH

Retractions in the scientific literature: is the incidence of research fraud increasing?

(2010) R. G. Steen   JOURNAL OF MEDICAL ETHICS

Transparency showcases strength of peer review

(2010) Bernd Pulverer   NATURE

Multiethnic Genetic Association Studies Improve Power for Locus Discovery

(2010) Sara L. Pulit et al.   PLoS One

Genetic Signatures of Exceptional Longevity in Humans

(2010) P. Sebastiani et al.   SCIENCE

Replication in Genome-Wide Association Studies

(2010) Peter Kraft et al.   STATISTICAL SCIENCE

Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor

(2009) Maria Ban et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

How to Use an Article About Genetic Association

(2009) John Attia et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

How to Use an Article About Genetic Association

(2009) John Attia et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

How to Use an Article About Genetic Association

(2009) John Attia et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20

(2009) Melanie Bahlo et al.   NATURE GENETICS

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

Discovery of Rare Variants via Sequencing: Implications for the Design of Complex Trait Association Studies

(2009) Bingshan Li et al.   PLoS 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

Why Current Publication Practices May Distort Science

(2008) Neal S Young et al.   PLOS MEDICINE