Improving bioinformatic pipelines for exome variant calling

Efficient targeted resequencing of human germline and cancer genomes by oligonucleotide-selective sequencing

(2011) Samuel Myllykangas et al.   NATURE BIOTECHNOLOGY

A Flexible Approach for Highly Multiplexed Candidate Gene Targeted Resequencing

(2011) Georges Natsoulis et al.   PLoS One

Manipulation of FASTQ data with Galaxy

(2010) D. Blankenberg et al.   BIOINFORMATICS

Dindel: Accurate indel calls from short-read data

(2010) C. A. Albers 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

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Next-generation DNA sequencing

(2008) Jay Shendure et al.   NATURE BIOTECHNOLOGY