Learning more about your genetic type

Posted - February 2020 in Living with HSP - Management & Treatment News

New data sharing tool VariantMatcher

 

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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

 

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