The Power of Gene-Based Rare Variant Methods to Detect Disease-Associated Variation and Test Hypotheses About Complex Disease

Rare-Variant Association Analysis: Study Designs and Statistical Tests

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

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

A Unified Mixed-Effects Model for Rare-Variant Association in Sequencing Studies

(2013) Jianping Sun et al.   GENETIC EPIDEMIOLOGY

Evaluating empirical bounds on complex disease genetic architecture

(2013) Vineeta Agarwala et al.   NATURE GENETICS

Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies

(2012) Seunggeun Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

(2012) Wenqing Fu et al.   NATURE

Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes

(2012) Amélie Bonnefond et al.   NATURE GENETICS

Exome sequencing and the genetic basis of complex traits

(2012) Adam Kiezun et al.   NATURE GENETICS

An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People

(2012) M. R. Nelson et al.   SCIENCE

The Empirical Power of Rare Variant Association Methods: Results from Sanger Sequencing in 1,998 Individuals

(2012) Martin Ladouceur et al.   PLoS Genetics

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

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

HAPGEN2: simulation of multiple disease SNPs

(2011) Zhan Su et al.   BIOINFORMATICS

Comparison of statistical tests for disease association with rare variants

(2011) Saonli Basu et al.   GENETIC EPIDEMIOLOGY

Evaluating the heritability explained by known susceptibility variants: a survey of ten complex diseases

(2011) Hon-Cheong So et al.   GENETIC EPIDEMIOLOGY

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

(2011) Manuel A Rivas et al.   NATURE GENETICS

Testing for an Unusual Distribution of Rare Variants

(2011) Benjamin M. Neale et al.   PLoS Genetics

Computational and statistical approaches to analyzing variants identified by exome sequencing

(2011) Nathan O Stitziel et al.   GENOME BIOLOGY

Pooled Association Tests for Rare Variants in Exon-Resequencing Studies

(2010) Alkes L. Price et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare Variant Association Analysis Methods for Complex Traits

(2010) Jennifer Asimit et al.   Annual Review of Genetics

Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia

(2010) Christopher T Johansen et al.   NATURE GENETICS

A Novel Adaptive Method for the Analysis of Next-Generation Sequencing Data to Detect Complex Trait Associations with Rare Variants Due to Gene Main Effects and Interactions

(2010) Dajiang J. Liu et al.   PLoS Genetics

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