Article
KATK: Fast genotyping of rare variants directly from unmapped sequencing reads.
Human mutation - 1 Jun 2021
Kaplinski Lauris, Möls Märt, Puurand Tarmo, Pajuste Fanny-Dhelia, Remm Maido
Abstract excerpt
KATK is a fast and accurate software tool for calling variants directly from raw next-generation sequencing reads. It uses predefined k-mers to retrieve only the reads of interest from the FASTQ file and calls genotypes by aligning retrieved reads locally. KATK does not use data about known polymorphisms and has NC (no call) as the default genotype. The reference or variant allele is called only if there is...
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