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

The Genome of the Netherlands: design, and project goals

(2013) Dorret I Boomsma et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genotype calling and phasing using next-generation sequencing reads and a haplotype scaffold

(2012) Androniki Menelaou et al.   BIOINFORMATICS

Optimal tests for rare variant effects in sequencing association studies

(2012) S. Lee et al.   BIOSTATISTICS

Bayesian refinement of association signals for 14 loci in 3 common diseases

(2012) Julian B Maller 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

Efficiency and Power as a Function of Sequence Coverage, SNP Array Density, and Imputation

(2012) Jason Flannick et al.   PLoS Computational Biology

Imputation of low-frequency variants using the HapMap3 benefits from large, diverse reference sets

(2011) Luke Jostins et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A comparison of approaches to account for uncertainty in analysis of imputed genotypes

(2011) Jin Zheng et al.   GENETIC EPIDEMIOLOGY

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

(2011) Gosia Trynka et al.   NATURE GENETICS

Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction

(2011) Jessica Shea et al.   NATURE GENETICS

A rare variant in MYH6 is associated with high risk of sick sinus syndrome

(2011) Hilma Holm et al.   NATURE GENETICS

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

(2011) Li Li et al.   PLoS One

Promise and pitfalls of the Immunochip

(2011) Adrian Cortes et al.   ARTHRITIS RESEARCH & THERAPY

Uncovering the roles of rare variants in common disease through whole-genome sequencing

(2010) Elizabeth T. Cirulli et al.   NATURE REVIEWS GENETICS

Genotype Imputation

(2009) Yun Li et al.   Annual Review of Genomics and Human Genetics

Accuracy of genome-wide imputation of untyped markers and impacts on statistical power for association studies

(2009) Ke Hao et al.   BMC 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

Concept, Design and Implementation of a Cardiovascular Gene-Centric 50 K SNP Array for Large-Scale Genomic Association Studies

(2008) Brendan J. Keating et al.   PLoS One