A Variational Bayes Discrete Mixture Test for Rare Variant Association

Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project

(2013) J. M. Johnsen et al.   BLOOD

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

(2013) Jianping Sun et al.   GENETIC EPIDEMIOLOGY

Incorporating Prior Biologic Information for High-Dimensional Rare Variant Association Studies

(2013) Melanie A. Quintana et al.   HUMAN HEREDITY

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

Five Years of GWAS Discovery

(2012) Peter M. Visscher et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Optimal tests for rare variant effects in sequencing association studies

(2012) S. Lee et al.   BIOSTATISTICS

von Willebrand factor: at the crossroads of bleeding and thrombosis

(2012) Cécile V. Denis et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis

(2012) Mary J Emond et al.   NATURE GENETICS

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

(2012) Bryan Howie et al.   NATURE GENETICS

In Vivo Analysis of the Role of O-Glycosylations of Von Willebrand Factor

(2012) Idinath Badirou et al.   PLoS One

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

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

(2012) M. R. Nelson et al.   SCIENCE

Characterisation of mutations and molecular studies of type 2 von Willebrand disease

(2012) F. Ahmad et al.   THROMBOSIS AND HAEMOSTASIS

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

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

Incorporating model uncertainty in detecting rare variants: the Bayesian risk index

(2011) Melanie A. Quintana et al.   GENETIC EPIDEMIOLOGY

Comparison of statistical tests for disease association with rare variants

(2011) Saonli Basu et al.   GENETIC EPIDEMIOLOGY

Estimation of Quantitative Trait Locus Effects with Epistasis by Variational Bayes Algorithms

(2011) Zitong Li et al.   GENETICS

Genetic determinants of von Willebrand factor levels and activity in relation to the risk of cardiovascular disease: a review

(2011) M. C. VAN SCHIE et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Pooled Association Tests for Rare Variants in Exon-Resequencing Studies

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

Hierarchical Modeling for Estimating Relative Risks of Rare Genetic Variants: Properties of the Pseudo-Likelihood Method

(2010) Marinela Capanu et al.   BIOMETRICS

A variational Bayes algorithm for fast and accurate multiple locus genome-wide association analysis

(2010) Benjamin A Logsdon et al.   BMC BIOINFORMATICS

Genetic Heterogeneity in Human Disease

(2010) Jon McClellan et al.   CELL

Bayesian analysis of rare variants in genetic association studies

(2010) Nengjun Yi et al.   GENETIC EPIDEMIOLOGY

A Data-Adaptive Sum Test for Disease Association with Multiple Common or Rare Variants

(2010) Fang Han et al.   HUMAN HEREDITY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Missing heritability and strategies for finding the underlying causes of complex disease

(2010) Evan E. Eichler et al.   NATURE REVIEWS GENETICS

Comprehensive Approach to Analyzing Rare Genetic Variants

(2010) Thomas J. Hoffmann et al.   PLoS One

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

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

Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study

(2009) J. EIKENBOOM et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

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

GenoSNP: a variational Bayes within-sample SNP genotyping algorithm that does not require a reference population

(2008) E. Giannoulatou et al.   BIOINFORMATICS

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

(2008) Mark I. McCarthy et al.   NATURE REVIEWS GENETICS

Genetic Variation in an Individual Human Exome

(2008) Pauline C. Ng et al.   PLoS Genetics