Article

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

2024-02-16

Abstract excerpt

Genomics for rare disease diagnosis has advanced at a rapid pace due to our ability to perform "N-of-1" 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 Undiagnose...

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Literature Corpus work: 8a9c356e-f512-5074-8709-ba020009b3f0
DOI: 10.1101/2024.02.13.580158

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