Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms
C Raczy, R Petrovski, CT Saunders, I Chorny… - …, 2013 - academic.oup.com
C Raczy, R Petrovski, CT Saunders, I Chorny, S Kruglyak, EH Margulies, HY Chuang…
Bioinformatics, 2013•academic.oup.comAn 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 …
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 …
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.
Contact: craczy@illumina.com
Supplementary information: Supplementary data are available at Bioinformatics online.
Oxford University Press