A new strategy for enhancing imputation quality of rare variants from next-generation sequencing data via combining SNP and exome chip data

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Rare variant association studies: considerations, challenges and opportunities

(2015) Paul L Auer et al.   Genome Medicine

UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age

(2015) Cathie Sudlow et al.   PLOS MEDICINE

Rare-Variant Association Analysis: Study Designs and Statistical Tests

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

How important are rare variants in common disease?

(2014) A. Saint Pierre et al.   Briefings in Functional Genomics

Improving accuracy of rare variant imputation with a two-step imputation approach

(2014) Eskil Kreiner-Møller et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Improved imputation quality of low-frequency and rare variants in European samples using the ‘Genome of The Netherlands’

(2014) Patrick Deelen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans

(2014) Mengmeng Du et al.   HUMAN MOLECULAR GENETICS

Rare mutations associating with serum creatinine and chronic kidney disease

(2014) Gardar Sveinbjornsson et al.   HUMAN MOLECULAR GENETICS

Whole-genome sequence variation, population structure and demographic history of the Dutch population

(2014) Laurent C Francioli 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

Deep Whole-Genome Sequencing of 100 Southeast Asian Malays

(2013) Lai-Ping Wong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2013) Qing Duan et al.   BIOINFORMATICS

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-Based Genomic Coverage Assessments of Current Human Genotyping Arrays

(2013) Sarah C. Nelson et al.   G3-Genes Genomes Genetics

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

Genome-Wide Association Analysis of Imputed Rare Variants: Application to Seven Common Complex Diseases

(2012) Reedik Mägi et al.   GENETIC EPIDEMIOLOGY

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

(2012) Wenqing Fu et al.   NATURE

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

(2012)   NATURE

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

(2012) Bryan Howie et al.   NATURE GENETICS

Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion

(2012) Jeroen R Huyghe 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

Haplotype variation and genotype imputation in African populations

(2011) Lucy Huang et al.   GENETIC EPIDEMIOLOGY

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

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

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

A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies

(2009) Bryan N. Howie et al.   PLoS Genetics

Shifting Paradigm of Association Studies: Value of Rare Single-Nucleotide Polymorphisms

(2008) Ivan P. Gorlov et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Common and rare variants in multifactorial susceptibility to common diseases

(2008) Walter Bodmer et al.   NATURE GENETICS