SNVer: a statistical tool for variant calling in analysis of pooled or individual next-generation sequencing data

On optimal pooling designs to identify rare variants through massive resequencing

(2011) Joon Sang Lee et al.   GENETIC EPIDEMIOLOGY

Multiple Testing for Pattern Identification, With Applications to Microarray Time-Course Experiments

(2011) Wenguang Sun et al.   JOURNAL OF THE AMERICAN STATISTICAL ASSOCIATION

Initial impact of the sequencing of the human genome

(2011) Eric S. Lander   NATURE

A decade’s perspective on DNA sequencing technology

(2011) Elaine R. Mardis   NATURE

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

(2011) Mark A DePristo et al.   NATURE GENETICS

A statistical method for the detection of variants from next-generation resequencing of DNA pools

(2010) V. Bansal   BIOINFORMATICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

High-throughput discovery of rare insertions and deletions in large cohorts

(2010) F. L. M. Vallania et al.   GENOME RESEARCH

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

(2010) A. McKenna et al.   GENOME RESEARCH

Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease

(2010) Yukihide Momozawa et al.   NATURE GENETICS

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

(2010) Sarah E Calvo et al.   NATURE GENETICS

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

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

Multiple testing in genome-wide association studies via hidden Markov models

(2009) Zhi Wei et al.   BIOINFORMATICS

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

(2009) Daniel C. Koboldt et al.   BIOINFORMATICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Overlapping pools for high-throughput targeted resequencing

(2009) S. Prabhu et al.   GENOME RESEARCH

A SNP discovery method to assess variant allele probability from next-generation resequencing data

(2009) Y. Shen et al.   GENOME RESEARCH

Deep sequencing to reveal new variants in pooled DNA samples

(2009) Astrid A. Out et al.   HUMAN MUTATION

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Quantification of rare allelic variants from pooled genomic DNA

(2009) Todd E Druley et al.   NATURE METHODS

Human genetic variation and its contribution to complex traits

(2009) Kelly A. Frazer et al.   NATURE REVIEWS GENETICS

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

(2009) L. A. Hindorff 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

Discovery of Rare Variants via Sequencing: Implications for the Design of Complex Trait Association Studies

(2009) Bingshan Li et al.   PLoS Genetics

Screening for Partial Conjunction Hypotheses

(2008) Yoav Benjamini et al.   BIOMETRICS

SNP frequency estimation using massively parallel sequencing of pooled DNA

(2008) Max Ingman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mapping short DNA sequencing reads and calling variants using mapping quality scores

(2008) H. Li et al.   GENOME RESEARCH

International genome project launched

(2008) Erika Check Hayden   NATURE

Common and rare variants in multifactorial susceptibility to common diseases

(2008) Walter Bodmer et al.   NATURE GENETICS

Caenorhabditis elegans mutant allele identification by whole-genome sequencing

(2008) Sumeet Sarin et al.   NATURE METHODS