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

Genomic matchmaking identifies individuals with overlapping phenotypes and rare variants in the same gene, but conventional two-sided approaches require both patients to have the same candidate gene flagged. The One-Sided Matching Portal enables researchers to query a gene directly across genome-wide sequencing data and review variant- and participant-level information. Pilot studies queried 130 newly associated disease genes and 178 candidate genes across more than 2,500 participants. The accompanying workflow filtered more than 99.8% of initial variant occurrences before clinical review, demonstrating that one-sided matchmaking can be performed efficiently when participant-level genotype and phenotype data are available.