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Li, Heng
Bioinformatics (Oxford, England), 11/2015, Letnik: 31, Številka: 22Journal Article
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.
