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Bioinformatics. 2013 Aug 15;29(16):2041-3. doi: 10.1093/bioinformatics/btt314. Epub 2013 Jun 4.

Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms.

Author information

  • 1Illumina United Kingdom, Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex, UK. craczy@illumina.com

Abstract

SUMMARY:

An ultrafast DNA sequence aligner (Isaac Genome Alignment Software) that takes advantage of high-memory hardware (>48 GB) and variant caller (Isaac Variant Caller) have been developed. We demonstrate that our combined pipeline (Isaac) is four to five times faster than BWA + GATK on equivalent hardware, with comparable accuracy as measured by trio conflict rates and sensitivity. We further show that Isaac is effective in the detection of disease-causing variants and can easily/economically be run on commodity hardware.

AVAILABILITY:

Isaac has an open source license and can be obtained at https://github.com/sequencing.

PMID:
23736529
DOI:
10.1093/bioinformatics/btt314
[PubMed - indexed for MEDLINE]
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