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

Abstract

Background 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 patients eligible for matchmaking. A one-sided approach to matchmaking, in which a gene of interest is queried directly 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.