PreCimp: Pre-collapsing imputation approach increases imputation accuracy of rare variants in terms of collapsed variables

Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol

(2014) Leslie A. Lange et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analysis of coding variants identified from exome sequencing resources for association with diabetic and non-diabetic nephropathy in African Americans

(2014) Jessica N. Cooke Bailey et al.   HUMAN GENETICS

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

Imputation of coding variants in African Americans: better performance using data from the exome sequencing project

(2013) Qing Duan et al.   BIOINFORMATICS

Optimal Methods for Using Posterior Probabilities in Association Testing

(2013) Keli Liu et al.   HUMAN HEREDITY

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

(2013) Carlos Cruchaga et al.   NATURE

Whole-genome sequence–based analysis of high-density lipoprotein cholesterol

(2013) Alanna C Morrison et al.   NATURE GENETICS

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

(2013) Danielle Welter et al.   NUCLEIC ACIDS RESEARCH

Local Exome Sequences Facilitate Imputation of Less Common Variants and Increase Power of Genome Wide Association Studies

(2013) Peter K. Joshi et al.   PLoS One

Imputation of Exome Sequence Variants into Population- Based Samples and Blood-Cell-Trait-Associated Loci in African Americans: NHLBI GO Exome Sequencing Project

(2012) Paul L. Auer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Optimal tests for rare variant effects in sequencing association studies

(2012) S. Lee et al.   BIOSTATISTICS

1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data

(2012) Jie Huang et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Extremely low-coverage sequencing and imputation increases power for genome-wide association studies

(2012) Bogdan Pasaniuc et al.   NATURE GENETICS

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

(2012) Bryan Howie et al.   NATURE GENETICS

Chapter 11: Genome-Wide Association Studies

(2012) William S. Bush et al.   PLoS Computational Biology

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

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

Performance of Genotype Imputations Using Data from the 1000 Genomes Project

(2011) Yun Ju Sung et al.   HUMAN HEREDITY

Initial impact of the sequencing of the human genome

(2011) Eric S. Lander   NATURE

A linear complexity phasing method for thousands of genomes

(2011) Olivier Delaneau et al.   NATURE METHODS

Performance of Genotype Imputation for Rare Variants Identified in Exons and Flanking Regions of Genes

(2011) Li Li et al.   PLoS One

Genotype Imputation with Thousands of Genomes

(2011) Bryan Howie et al.   G3-Genes Genomes Genetics

To Identify Associations with Rare Variants, Just WHaIT: Weighted Haplotype and Imputation-Based Tests

(2010) Yun Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Extending Rare-Variant Testing Strategies: Analysis of Noncoding Sequence and Imputed Genotypes

(2010) Matthew Zawistowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes

(2010) Yun Li et al.   GENETIC EPIDEMIOLOGY

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

(2010) A. McKenna et al.   GENOME RESEARCH

Statistical analysis strategies for association studies involving rare variants

(2010) Vikas Bansal et al.   NATURE REVIEWS GENETICS

Genotype imputation for genome-wide association studies

(2010) Jonathan Marchini et al.   NATURE REVIEWS GENETICS

The Relationship between Imputation Error and Statistical Power in Genetic Association Studies in Diverse Populations

(2009) Lucy Huang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits

(2009) Yoon Shin Cho et al.   NATURE GENETICS

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

(2009) L. A. Hindorff 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

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

Common and rare variants in multifactorial susceptibility to common diseases

(2008) Walter Bodmer et al.   NATURE GENETICS