Nebula: ultra-efficient mapping-free structural variant genotyper.

ABSTRACT: Large scale catalogs of common genetic variants (including indels and structural variants) are being created using data from second and third generation whole-genome sequencing technologies. However, the genotyping of these variants in newly sequenced samples is a nontrivial task that requires extensive computational resources. Furthermore, current approaches are mostly limited to only specific types of variants and are generally prone to various errors and ambiguities when genotyping complex events. We are proposing an ultra-efficient approach for genotyping any type of structural variation that is not limited by the shortcomings and complexities of current mapping-based approaches. Our method Nebula utilizes the changes in the count of k-mers to predict the genotype of structural variant

SUBMITTER: Khorsand P 

PROVIDER: S-EPMC8096284 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature