Automated Identification of Germline de novo Mutations in Family Trios: A Consensus-Based Informatic Approach.

ABSTRACT: Accurate identification of germline de novo variants (DNVs) remains a challenging problem despite rapid advances in sequencing technologies as well as methods for the analysis of the data they generate, with putative solutions often involving ad hoc filters and visual inspection of identified variants. Here, we present a purely informatic method for the identification of DNVs by analyzing short-read genome sequencing data from proband-parent trios. Our method evaluates variant calls generated by three genome sequence analysis pipelines utilizing different algorithms-GATK HaplotypeCaller, DeepTrio and Velsera GRAF-exploring the assumption that a requirement of consensus can serve as an effective filter for high-quality DNVs. We assessed the efficacy of our method by testing DN

SUBMITTER: Shadrina M 

PROVIDER: S-EPMC10979888 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature