CoVaCS: a consensus variant calling system

A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree

(2016) Michael A. Eberle et al.   GENOME RESEARCH

Next generation sequencing: implications in personalized medicine and pharmacogenomics

(2016) Bahareh Rabbani et al.   Molecular BioSystems

Deep sequencing of 10,000 human genomes

(2016) Amalio Telenti et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

From big data analysis to personalized medicine for all: challenges and opportunities

(2015) Akram Alyass et al.   BMC Medical Genomics

Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders

(2015) H. Stranneheim et al.   JOURNAL OF INTERNAL MEDICINE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

(2015) Aziz Belkadi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Standard development at the Human Variome Project

(2015) Timothy D. Smith et al.   Database-The Journal of Biological Databases and Curation

A Comparison of Variant Calling Pipelines Using Genome in a Bottle as a Reference

(2015) Adam Cornish et al.   Biomed Research International

Systematic comparison of variant calling pipelines using gold standard personal exome variants

(2015) Sohyun Hwang et al.   Scientific Reports

Consensus Genotyper for Exome Sequencing (CGES): improving the quality of exome variant genotypes

(2014) Vassily Trubetskoy et al.   BIOINFORMATICS

Trimmomatic: a flexible trimmer for Illumina sequence data

(2014) Anthony M. Bolger et al.   BIOINFORMATICS

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

(2014) Justin M Zook et al.   NATURE BIOTECHNOLOGY

WEP: a high-performance analysis pipeline for whole-exome data

(2013) Mattia D'Antonio et al.   BMC BIOINFORMATICS

A survey of tools for variant analysis of next-generation genome sequencing data

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

An integrative variant analysis suite for whole exome next-generation sequencing data

(2012) Danny Challis et al.   BMC BIOINFORMATICS

VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing

(2012) D. C. Koboldt et al.   GENOME RESEARCH

Personalized Medicine: Progress and Promise

(2011) Isaac S. Chan et al.   Annual Review of Genomics and Human Genetics

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

(2011) Mark A DePristo et al.   NATURE GENETICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

How to catch all those mutations-the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010

(2010) Maija R.J. Kohonen-Corish et al.   HUMAN MUTATION

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

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

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

(2009) Ben Langmead et al.   GENOME BIOLOGY