Progress in methods for rare variant association

A Statistical Approach for Rare-Variant Association Testing in Affected Sibships

(2015) Michael P. Epstein et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Permutation Testing in the Presence of Polygenic Variation

(2015) Mark Abney   GENETIC EPIDEMIOLOGY

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

Whole-genome sequence-based analysis of thyroid function

(2015) Peter N. Taylor et al.   Nature Communications

Rare-Variant Association Analysis: Study Designs and Statistical Tests

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

Simulation of Finnish Population History, Guided by Empirical Genetic Data, to Assess Power of Rare-Variant Tests in Finland

(2014) Sophie R. Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Association of Low-Frequency and Rare Coding-Sequence Variants with Blood Lipids and Coronary Heart Disease in 56,000 Whites and Blacks

(2014) Gina M. Peloso et al.   AMERICAN JOURNAL OF HUMAN GENETICS

FARVAT: a family-based rare variant association test

(2014) Sungkyoung Choi et al.   BIOINFORMATICS

Association analysis using next-generation sequence data from publicly available control groups: the robust variance score statistic

(2014) Andriy Derkach et al.   BIOINFORMATICS

Using population isolates in genetic association studies

(2014) K. Hatzikotoulas et al.   Briefings in Functional Genomics

Analysis of rare variant population structure in Europeans explains differential stratification of gene-based tests

(2014) Matthew Zawistowski et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Whole exome sequencing of familial hypercholesterolaemia patients negative forLDLR/APOB/PCSK9mutations

(2014) Marta Futema et al.   JOURNAL OF MEDICAL GENETICS

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

Pooled Association Tests for Rare Genetic Variants: A Review and Some New Results

(2014) Andriy Derkach et al.   STATISTICAL SCIENCE

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

(2014) Nicholas J. Timpson et al.   Nature Communications

General Framework for Meta-analysis of Rare Variants in Sequencing Association Studies

(2013) Seunggeun Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Sequence Kernel Association Tests for the Combined Effect of Rare and Common Variants

(2013) Iuliana Ionita-Laza et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare-Variant Extensions of the Transmission Disequilibrium Test: Application to Autism Exome Sequence Data

(2013) Zongxiao He et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Congruency in the prediction of pathogenic missense mutations: state-of-the-art web-based tools

(2013) S. Castellana et al.   BRIEFINGS IN BIOINFORMATICS

Multiple Genetic Variant Association Testing by Collapsing and Kernel Methods With Pedigree or Population Structured Data

(2013) Daniel J. Schaid et al.   GENETIC EPIDEMIOLOGY

GEE-Based SNP Set Association Test for Continuous and Discrete Traits in Family-Based Association Studies

(2013) Xuefeng Wang et al.   GENETIC EPIDEMIOLOGY

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

(2013) Jianping Sun et al.   GENETIC EPIDEMIOLOGY

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

(2013) Carlos Cruchaga et al.   NATURE

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

De novo mutations in histone-modifying genes in congenital heart disease

(2013) Samir Zaidi et al.   NATURE

Meta-analysis of gene-level tests for rare variant association

(2013) Dajiang J Liu et al.   NATURE GENETICS

DeNovoGear: de novo indel and point mutation discovery and phasing

(2013) Avinash Ramu et al.   NATURE METHODS

Quantitative trait analysis in sequencing studies under trait-dependent sampling

(2013) D.-Y. Lin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Family-Based Association Studies for Next-Generation Sequencing

(2012) Yun Zhu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An Exponential Combination Procedure for Set-Based Association Tests in Sequencing Studies

(2012) Lin S. Chen et al.   AMERICAN JOURNAL OF HUMAN 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

Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

(2012) Yali Xue 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

Robust and Powerful Tests for Rare Variants Using Fisher's Method to Combine Evidence of Association From Two or More Complementary Tests

(2012) Andriy Derkach et al.   GENETIC EPIDEMIOLOGY

Detecting Rare Variant Effects Using Extreme Phenotype Sampling in Sequencing Association Studies

(2012) Ian J. Barnett et al.   GENETIC EPIDEMIOLOGY

Sequence Kernel Association Test for Quantitative Traits in Family Samples

(2012) Han Chen et al.   GENETIC EPIDEMIOLOGY

The role of large pedigrees in an era of high-throughput sequencing

(2012) Ellen M. Wijsman   HUMAN GENETICS

ARIEL and AMELIA: Testing for an Accumulation of Rare Variants Using Next-Generation Sequencing Data

(2012) Jennifer L. Asimit et al.   HUMAN HEREDITY

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

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

Differential confounding of rare and common variants in spatially structured populations

(2012) Iain Mathieson et al.   NATURE GENETICS

A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer

(2012) Julius Gudmundsson et al.   NATURE GENETICS

Rare and common variants: twenty arguments

(2012) Greg Gibson   NATURE REVIEWS GENETICS

Statistical Guidance for Experimental Design and Data Analysis of Mutation Detection in Rare Monogenic Mendelian Diseases by Exome Sequencing

(2012) Degui Zhi et al.   PLoS One

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

(2012) M. R. Nelson et al.   SCIENCE

A Genome-wide Comparison of the Functional Properties of Rare and Common Genetic Variants in Humans

(2011) Qianqian Zhu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN 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

Genome partitioning of genetic variation for complex traits using common SNPs

(2011) Jian Yang et al.   NATURE GENETICS

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

Pooled Association Tests for Rare Variants in Exon-Resequencing Studies

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

PHAST and RPHAST: phylogenetic analysis with space/time models

(2010) M. J. Hubisz et al.   BRIEFINGS IN BIOINFORMATICS

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

(2010) Fang Han et al.   HUMAN HEREDITY

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

New approaches to population stratification in genome-wide association studies

(2010) Alkes L. Price et al.   NATURE REVIEWS GENETICS

Statistical analysis strategies for association studies involving rare variants

(2010) Vikas Bansal et al.   NATURE REVIEWS GENETICS

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

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

Common vs. rare allele hypotheses for complex diseases

(2009) Nicholas J Schork et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Asymptotic tests of association with multiple SNPs in linkage disequilibrium

(2009) Wei Pan   GENETIC EPIDEMIOLOGY

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

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

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

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