FermiKit: assembly-based variant calling for Illumina resequencing data.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 26220959.
- Also identified by DOI 10.1093/bioinformatics/btv440 and PMC identifier 4757955.
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Abstract
FermiKit is a variant calling pipeline for Illumina whole-genome germline data. It de novo assembles short reads and then maps the assembly against a reference genome to call SNPs, short insertions/deletions and structural variations. FermiKit takes about one day to assemble 30-fold human whole-genome data on a modern 16-core server with 85 GB RAM at the peak, and calls variants in half an hour to an accuracy comparable to the current practice. FermiKit assembly is a reduced representation of raw data while retaining most of the original information. https://github.com/lh3/fermikit hengli@broadinstitute.org.
Medical subject headings
- Algorithms
- Sequence Analysis, DNA