ProxECAT: Proxy External Controls Association Test. A new case-control gene region association test using allele frequencies from public controls

Improving power for rare-variant tests by integrating external controls

(2017) Seunggeun Lee et al.   GENETIC EPIDEMIOLOGY

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

(2017) Audrey E. Hendricks et al.   Scientific Reports

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

(2016) Monkol Lek et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

The UK10K project identifies rare variants in health and disease

(2015)   NATURE

A polygenic burden of rare disruptive mutations in schizophrenia

(2014) Shaun M. Purcell et al.   NATURE

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

Sequence Kernel Association Tests for the Combined Effect of Rare and Common Variants

(2013) Iuliana Ionita-Laza et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity

(2013) Eleanor Wheeler et al.   NATURE GENETICS

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

Statistical Guidance for Experimental Design and Data Analysis of Mutation Detection in Rare Monogenic Mendelian Diseases by Exome Sequencing

(2012) Degui Zhi et al.   PLoS One

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Fast model-based estimation of ancestry in unrelated individuals

(2009) D. H. Alexander et al.   GENOME RESEARCH