Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.

ABSTRACT:

Background

A major obstacle faced by families with rare diseases is obtaining a genetic diagnosis. The average "diagnostic odyssey" lasts over five years and causal variants are identified in under 50%, even when capturing variants genome-wide. To aid in the interpretation and prioritization of the vast number of variants detected, computational methods are proliferating. Knowing which tools are most effective remains unclear. To evaluate the performance of computational methods, and to encourage innovation in method development, we designed a Critical Assessment of Genome Interpretation (CAGI) community challenge to place variant prioritization models head-to-head in a real-life clinical diagnostic setting.

Methods

We utilized genome sequencing (GS) data from families seque

SUBMITTER: Stenton SL 

PROVIDER: S-EPMC11057178 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature