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

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.