New data sharing tool VariantMatcher
VariantMatcher (variantmatcher.org) is a new data sharing tool developed by researchers at the Johns Hopkins University in the US.
The principal goal of VariantMatcher is to help solve ‘unsolved’ exomes and genomes. This may be done with cases from research or clinical sources.
VariantMatcher is a freely accessible web site developed as part of the Baylor-Hopkins Center for Mendelian Genomics (BHCMG). It is designed to enable connections between patients, their families, clinicians, and researchers from around the world with the BHCMG collaborators through a common interest in the same genomic coordinate(s).
VariantMatcher allows individuals to post a genomic coordinate(s) of interest and will connect them to participants of the BHCMG project with interest in the same variant(s). Users will create an account and submit genomic coordinate(s) of interest. The matching process is automatic. When a match occurs, both parties will automatically receive an email notification.
Follow-up is at the discretion of both parties. If a match is not identified at the time of submission, the genomic coordinate(s) of interest can be stored in the database for future queries.
VariantMatcher adheres to strict safety and privacy protocols. Users must register and be approved to use the site. The database is not searchable and does not collect or evaluate identifiable data. Users may not access the full database.
Nara Sobreira, MD, PhD
Assistant Professor of Pediatrics
McKusick-Nathans Department of Genetic Medicine
Johns Hopkins University
Ada Hamosh, MD, MPH
Dr. Frank V. Sutland Professor
McKusick-Nathans
Department of Genetic Medicine (DGM)
Clinical Director, DGM
Scientific Director, OMIM
David Valle, MD
Henry J. Knott Professor and Director,
McKusick-Nathans Department of Genetic Medicine
The Johns Hopkins School of Medicine