Article
FermiKit: assembly-based variant calling for Illumina resequencing data.
Bioinformatics (Oxford, England) - 15 Nov 2015
Li Heng
Abstract excerpt
UNLABELLED: 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...
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