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

SEQCHIP: a powerful method to integrate sequence and genotype data for the detection of rare variant associations

(2012) Dajiang J. Liu et al.   BIOINFORMATICS

Optimal tests for rare variant effects in sequencing association studies

(2012) S. Lee et al.   BIOSTATISTICS

Association Testing for Next-Generation Sequencing Data Using Score Statistics

(2012) Line Skotte et al.   GENETIC EPIDEMIOLOGY

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

(2012)   NATURE

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

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

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

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

Estimation of allele frequency and association mapping using next-generation sequencing data

(2011) Su Kim et al.   BMC BIOINFORMATICS

Comparison of statistical tests for disease association with rare variants

(2011) Saonli Basu et al.   GENETIC EPIDEMIOLOGY

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Genotype and SNP calling from next-generation sequencing data

(2011) Rasmus Nielsen et al.   NATURE REVIEWS GENETICS

Retraction

(2011) P. Sebastiani et al.   SCIENCE

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

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Three Ways of Combining Genotyping and Resequencing in Case-Control Association Studies

(2010) Jeffrey A. Longmate et al.   PLoS One

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4)

(2009) Lisa J Strug et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

(2009) R. Drmanac et al.   SCIENCE

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

(2009) Bo Eskerod Madsen et al.   PLoS Genetics