| Literature DB >> 23736529 |
Come Raczy1, Roman Petrovski, Christopher T Saunders, Ilya Chorny, Semyon Kruglyak, Elliott H Margulies, Han-Yu Chuang, Morten Källberg, Swathi A Kumar, Arnold Liao, Kristina M Little, Michael P Strömberg, Stephen W Tanner.
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.Mesh:
Year: 2013 PMID: 23736529 DOI: 10.1093/bioinformatics/btt314
Source DB: PubMed Journal: Bioinformatics ISSN: 1367-4803 Impact factor: 6.937