Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 23736529.
- Also identified by DOI 10.1093/bioinformatics/btt314.
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Abstract
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. Isaac has an open source license and can be obtained at https://github.com/sequencing.
Medical subject headings
- High-Throughput Nucleotide Sequencing
- Sequence Alignment
- Sequence Analysis, DNA
- Software