Challenges ahead for matchmaking

Abstract

With every additional individual whose genome is sequenced thousands of novel variants enter the scene. It is these variants of unknown clinical significance, VUCS, that represent a great challenge to geneticists, who are dealing with high-throughput sequencing data sets. Especially in diagnostics of patients with unknown monogenic disease the joint effort of geneticists is required to find new disease gene associations. For this purpose, online platforms for matchmaking have been developed that allow clinician scientists to collaborate worldwide and to share medically relevant data. However, for a success of these tools, skills in deep phenotyping as well as new statistical approaches will be required.