Article

One-Sided Matching Portal (OSMP): a tool to facilitate rare disease patient matchmaking

2024-09-04

Abstract excerpt

<h4>Background: </h4> Genomic matchmaking - the process of identifying multiple individuals with overlapping phenotypes and rare variants in the same gene - is an important tool facilitating gene discoveries for unsolved rare genetic disease (RGD) patients. Current approaches are two-sided, meaning both patients being matched must have the same candidate gene flagged. This limits the number of unsolved RGD patient...

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Literature Corpus work: 0174bdf8-94b0-50f3-ba50-bdc169f0a3ba
DOI: 10.1101/2024.09.03.24313012

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