Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.

ABSTRACT:

Background

A major obstacle faced by rare disease families is obtaining a genetic diagnosis. The average "diagnostic odyssey" lasts over five years, and causal variants are identified in under 50%. The Rare Genomes Project (RGP) is a direct-to-participant research study on the utility of genome sequencing (GS) for diagnosis and gene discovery. Families are consented for sharing of sequence and phenotype data with researchers, allowing development of a Critical Assessment of Genome Interpretation (CAGI) community challenge, placing variant prioritization models head-to-head in a real-life clinical diagnostic setting.

Methods

Predictors were provided a dataset of phenotype terms and variant calls from GS of 175 RGP individuals (65 families), including 35 solved training set fa

SUBMITTER: Stenton SL 

PROVIDER: S-EPMC10418577 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature