One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient Matchmaking.

ABSTRACT:

Background

Genomic matchmaking-the process of identifying 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 RGD patients eligible for matchmaking. One-sided matchmaking, in which a gene of interest is queried in the genome-wide sequencing data of RGD patients, would make matchmaking possible for previously undiscoverable individuals. However, platforms and workflows for this approach have not been well established.

Result

We released a beta version of the One-Sided Matching Portal (OSMP), a platform capable of perf

SUBMITTER: Osmond M 

PROVIDER: S-EPMC12527602 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature