Kevlar: A Mapping-Free Framework for Accurate Discovery of De Novo Variants.

ABSTRACT: De novo genetic variants are an important source of causative variation in complex genetic disorders. Many methods for variant discovery rely on mapping reads to a reference genome, detecting numerous inherited variants irrelevant to the phenotype of interest. To distinguish between inherited and de novo variation, sequencing of families (parents and siblings) is commonly pursued. However, standard mapping-based approaches tend to have a high false-discovery rate for de novo variant prediction. Kevlar is a mapping-free method for de novo variant discovery, based on direct comparison of sequences between related individuals. Kevlar identifies high-abundance k-mers unique to the individual of interest. Reads containing these k-mers are partitioned into disjoint sets by shared k-mer content f

SUBMITTER: Standage DS 

PROVIDER: S-EPMC6682328 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature