Improving power for rare-variant tests by integrating external controls

A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies

(2016) Corneliu A. Bodea et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The genetic architecture of type 2 diabetes

(2016) Christian Fuchsberger et al.   NATURE

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

(2016) Monkol Lek et al.   NATURE

Testing Rare-Variant Association without Calling Genotypes Allows for Systematic Differences in Sequencing between Cases and Controls

(2016) Yi-Juan Hu et al.   PLoS Genetics

Rare-Variant Association Analysis: Study Designs and Statistical Tests

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

Association analysis using next-generation sequence data from publicly available control groups: the robust variance score statistic

(2014) Andriy Derkach et al.   BIOINFORMATICS

Ancestry estimation and control of population stratification for sequence-based association studies

(2014) Chaolong Wang 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

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

General Framework for Meta-analysis of Rare Variants in Sequencing Association Studies

(2013) Seunggeun Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2013) Carlos Cruchaga et al.   NATURE

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

(2013) Xiaowei Zhan et al.   NATURE GENETICS

NCBI’s Database of Genotypes and Phenotypes: dbGaP

(2013) Kimberly A. Tryka et al.   NUCLEIC ACIDS RESEARCH

Optimal tests for rare variant effects in sequencing association studies

(2012) S. Lee et al.   BIOSTATISTICS

A tale of three next generation sequencing platforms: comparison of Ion torrent, pacific biosciences and illumina MiSeq sequencers

(2012) Michael Quail et al.   BMC GENOMICS

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

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

Comparison of statistical tests for disease association with rare variants

(2011) Saonli Basu et al.   GENETIC EPIDEMIOLOGY

An evaluation of statistical approaches to rare variant analysis in genetic association studies

(2009) Andrew P. Morris et al.   GENETIC EPIDEMIOLOGY

A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic

(2009) Bo Eskerod Madsen et al.   PLoS Genetics

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

A Note on Allelic Tests in Case-Control Association Studies

(2008) M. Guedj et al.   ANNALS OF HUMAN GENETICS

Next-generation DNA sequencing

(2008) Jay Shendure et al.   NATURE BIOTECHNOLOGY