A fully-automated event-based variant prioritizing solution to the CAGI5 intellectual disability gene panel challenge.

ABSTRACT: Recent applications of gene panel sequencing analysis have significantly helped with identifying genetic causes for inherited diseases. However, large amounts of candidate variants remain a major challenge for prioritizing, often requiring arbitrary cutoffs in multiple steps. In addition, existing tools often prioritize a list of promising candidates that require much manual work to evaluate. To this end, we designed an automated, basically cutoff-free scoring scheme named Context and Hereditary Event based Scoring Scheme (CHESS), that scores all possible inheritance events in each gene, by taking into consideration phenotypes, genotypes, and how the manual prioritization works. We applied CHESS to the Critical Assessment of Genome Interpretation 5 intellectual disability panel challenge,

SUBMITTER: Chen J 

PROVIDER: S-EPMC6744322 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature