Abstract
A major challenge in validating genetic causes for patients with rare
diseases (RDs) is the difficulty in identifying other RD patients with
overlapping phenotypes and variants in the same candidate gene. This
process, known as matchmaking, requires robust data sharing solutions in
order to be effective. In 2014 we launched PhenomeCentral, a RD data
repository capable of collecting computer-readable genotypic and
phenotypic data for the purposes of RD matchmaking. Over the past 7
years PhenomeCentral’s features have been expanded and its dataset has
consistently grown. There are currently 1,615 users registered on
PhenomeCentral, which have contributed over 12,000 patient cases. Most
of these cases contain detailed phenotypic terms, with a significant
portion also providing genomic sequence data or other forms of clinical
information. Matchmaking within PhenomeCentral, and with connections to
other data repositories in the Matchmaker Exchange, have collectively
resulted in over 60,000 matches, which have facilitated multiple gene
discoveries. The collection of deep phenotypic and genotypic data has
also positioned PhenomeCentral well to support next generation of
matchmaking initiatives that utilize genome sequencing data, ensuring
that PhenomeCentral will remain a useful tool in solving undiagnosed RD
cases in the years to come.