Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.

ABSTRACT: Genomics for rare disease diagnosis has advanced at a rapid pace due to our ability to perform in-depth analyses on individual patients with ultra-rare diseases. The increasing sizes of ultra-rare disease cohorts internationally newly enables cohort-wide analyses for new discoveries, but well-calibrated statistical genetics approaches for jointly analyzing these patients are still under development. The Undiagnosed Diseases Network (UDN) brings multiple clinical, research and experimental centers under the same umbrella across the United States to facilitate and scale case-based diagnostic analyses. Here, we present the first joint analysis of whole genome sequencing data of UDN patients across the network. We introduce new, well-calibrated statistical methods for prioritizing disease gene

SUBMITTER: Kobren SN 

PROVIDER: S-EPMC12328722 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature