The Value of Statistical or Bioinformatics Annotation for Rare Variant Association With Quantitative Trait

A Permutation Procedure to Correct for Confounders in Case-Control Studies, Including Tests of Rare Variation

(2012) Michael P. Epstein et al.   AMERICAN JOURNAL OF HUMAN 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

Testing Genetic Association With Rare Variants in Admixed Populations

(2012) Xianyun Mao et al.   GENETIC EPIDEMIOLOGY

A Fast and Noise-Resilient Approach to Detect Rare-Variant Associations With Deep Sequencing Data for Complex Disorders

(2012) Yee Him Cheung et al.   GENETIC EPIDEMIOLOGY

Genotype Imputation of MetabochipSNPs Using a Study-Specific Reference Panel of ∼4,000 Haplotypes in African Americans From the Women's Health Initiative

(2012) Eric Yi Liu et al.   GENETIC EPIDEMIOLOGY

An Optimum Projection and Noise Reduction Approach for Detecting Rare and Common Variants Associated with Complex Diseases

(2012) Asuman Turkmen et al.   HUMAN HEREDITY

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

(2012)   NATURE

Multiple Regression Methods Show Great Potential for Rare Variant Association Tests

(2012) ChangJiang Xu 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

Population-Based Resequencing of APOA1 in 10,330 Individuals: Spectrum of Genetic Variation, Phenotype, and Comparison with Extreme Phenotype Approach

(2012) Christiane L. Haase et al.   PLoS Genetics

A General Framework for Detecting Disease Associations with Rare Variants in Sequencing Studies

(2011) Dan-Yu Lin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Studying Gene and Gene-Environment Effects of Uncommon and Common Variants on Continuous Traits: A Marker-Set Approach Using Gene-Trait Similarity Regression

(2011) Jung-Ying Tzeng 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

Hierarchical Generalized Linear Models for Multiple Groups of Rare and Common Variants: Jointly Estimating Group and Individual-Variant Effects

(2011) Nengjun Yi et al.   PLoS Genetics

Testing for an Unusual Distribution of Rare Variants

(2011) Benjamin M. Neale et al.   PLoS Genetics

Fine Mapping of Five Loci Associated with Low-Density Lipoprotein Cholesterol Detects Variants That Double the Explained Heritability

(2011) Serena Sanna et al.   PLoS 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

Pooled Association Tests for Rare Variants in Exon-Resequencing Studies

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

Association screening of common and rare genetic variants by penalized regression

(2010) H. Zhou et al.   BIOINFORMATICS

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

(2010) Yun Li et al.   GENETIC EPIDEMIOLOGY

Hints of hidden heritability in GWAS

(2010) Greg Gibson   NATURE GENETICS

Genotype imputation for genome-wide association studies

(2010) Jonathan Marchini et al.   NATURE REVIEWS GENETICS

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

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

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Rare Variants Create Synthetic Genome-Wide Associations

(2010) Samuel P. Dickson et al.   PLOS BIOLOGY

SCAD-penalized regression in high-dimensional partially linear models

(2009) Huiliang Xie et al.   ANNALS OF STATISTICS

Genotype Imputation

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

SNP detection for massively parallel whole-genome resequencing

(2009) R. Li et al.   GENOME RESEARCH

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Power of deep, all-exon resequencing for discovery of human trait genes

(2009) G. V. Kryukov et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes

(2009) S. Nejentsev et al.   SCIENCE

A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic

(2009) Bo Eskerod Madsen 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

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

Coordinate descent algorithms for lasso penalized regression

(2008) Tong Tong Wu et al.   Annals of Applied Statistics

The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome

(2008) Mathieu Firmann et al.   BMC Cardiovascular Disorders

Practical aspects of imputation-driven meta-analysis of genome-wide association studies

(2008) P. I.W. de Bakker et al.   HUMAN MOLECULAR GENETICS

Personal genomes: The case of the missing heritability

(2008) Brendan Maher   NATURE