Pathway-Based Approaches for Sequencing-Based Genome-Wide Association Studies

Exome sequencing and the genetic basis of complex traits

(2012) Adam Kiezun et al.   NATURE GENETICS

A powerful test for multiple rare variants association studies that incorporates sequencing qualities

(2012) Z. John Daye et al.   NUCLEIC ACIDS RESEARCH

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

The Empirical Power of Rare Variant Association Methods: Results from Sanger Sequencing in 1,998 Individuals

(2012) Martin Ladouceur et al.   PLoS 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

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

SNP-based pathway enrichment analysis for genome-wide association studies

(2011) Lingjie Weng et al.   BMC BIOINFORMATICS

Using the gene ontology to scan multilevel gene sets for associations in genome wide association studies

(2011) Daniel J. Schaid et al.   GENETIC EPIDEMIOLOGY

Gene set analysis of genome-wide association studies: Methodological issues and perspectives

(2011) Lily Wang et al.   GENOMICS

A New Testing Strategy to Identify Rare Variants with Either Risk or Protective Effect on Disease

(2011) Iuliana Ionita-Laza et al.   PLoS Genetics

Replication Strategies for Rare Variant Complex Trait Association Studies via Next-Generation Sequencing

(2010) Dajiang J. Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Principal-Component Analysis for Assessment of Population Stratification in Mitochondrial Medical Genetics

(2010) Alessandro Biffi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare Variant Association Analysis Methods for Complex Traits

(2010) Jennifer Asimit et al.   Annual Review of Genetics

Genome-wide gene and pathway analysis

(2010) Li Luo et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Bayesian analysis of rare variants in genetic association studies

(2010) Nengjun Yi et al.   GENETIC EPIDEMIOLOGY

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Estimation of effect size distribution from genome-wide association studies and implications for future discoveries

(2010) Ju-Hyun Park et al.   NATURE GENETICS

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

(2010) Yingrui Li et al.   NATURE GENETICS

Analysing biological pathways in genome-wide association studies

(2010) Kai Wang et al.   NATURE REVIEWS GENETICS

Statistical analysis strategies for association studies involving rare variants

(2010) Vikas Bansal 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

GSA-SNP: a general approach for gene set analysis of polymorphisms

(2010) Dougu Nam et al.   NUCLEIC ACIDS RESEARCH

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

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

Population sequencing of two endocannabinoid metabolic genes identifies rare and common regulatory variants associated with extreme obesity and metabolite level

(2010) Olivier Harismendy et al.   GENOME BIOLOGY

A Unified Approach to Genotype Imputation and Haplotype-Phase Inference for Large Data Sets of Trios and Unrelated Individuals

(2009) Brian L. Browning et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Transforming Growth Factor-β Receptor-3 Is Associated with Pulmonary Emphysema

(2009) Craig P. Hersh et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Leptin receptor polymorphisms and lung function decline in COPD

(2009) N. N. Hansel et al.   EUROPEAN RESPIRATORY JOURNAL

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

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng 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

Associations of IL6 polymorphisms with lung function decline and COPD

(2009) J-Q He et al.   THORAX

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

GSEA-SNP: applying gene set enrichment analysis to SNP data from genome-wide association studies

(2008) Marit Holden et al.   BIOINFORMATICS

Personal genomes: The case of the missing heritability

(2008) Brendan Maher   NATURE