Frequently Asked Questions (FAQs)

What is the purpose of VariantMatcher?

To connect patients, their families, researchers, and clinicians around a shared goal - to identify novel disease genes and better understand rare diseases.

See the About page for more information.

Who can be a part of the VariantMatcher community?
  1. Researchers
  2. Clinicians / Counselors / Other health care providers
  3. Patients and their families

How does VariantMatcher work?

VariantMatcher is a freely accessible web site developed with support from the Baylor-Hopkins Center for Mendelian Genomics (BHCMG) as part of the Centers for Mendelian Genomics network.

VariantMatcher is designed to enable connections between patients, their families, clinicians and researchers from around the world who share an interest in the same genomic coordinate(s). The principal goal for making VariantMatcher available is to help solve 'unsolved' exomes. This may be done with cases from research or clinical sources.

The site allows individuals to post a genomic coordinate(s) of interest and will connect these individuals to participants of the BHCMG project with interest in the genomic coordinate(s). Users create an account and submit genomic coordinate(s) of interest. The match is done automatically. When a match occurs, both parties will automatically receive 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 will not continue to be queried as this information is not stored in the database.

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 identifiable data. Users may not access the full database.

What does it mean to "match"?

A "match" occurs when a user finds a BHCMG user with interest in the same genomic coordinate(s).

What happens after a user submits a query?

Users will receive an email informing them of the presence or absence of a match in the database. If there is a match, both users will be notified simultaneously.

If there is an instant match all the users involved in the match will be simultaneously notified. The email about the match includes the information that matched and the email contact of the users involved. The users can contact each other if they wish and exchange more information about the gene, variant, mode of inheritance, phenotype, features, etc...

If there is currently no match in the database, the user will be notified and the query will not be stored in the database. In the future, if the user would like to query the database again, a new search needs to be made.

What does a positive match on a genomic coordinate mean?

If you match another user based on a genomic coordinate, this is just the first step. The patients do not always have the same phenotypic features or the disease may not follow the same mode of inheritance. The next step is contacting the other users and exchanging more information. This is crucial to define if this is a complete match that can generate a new disease gene/phenotype association.

What is the next step if there is not a "match" based on the other information exchanged?

Users' query will not remain in the database for future matches that may solve their case. If a user would like to query the database in the future the information needs to be submitted again.

What information is required to participate on VariantMatcher?

At least one (and at the most 10/day) Genomic Location. This information can be uploaded in the Match section as chromosome, start position and end position.

Important steps for patients to take before using VariantMatcher?

Check to make sure that the variant of interest associated to the genomic coordinate entered is a coding, rare (MAF<1% at gnomAD) single nucleotide variant (SNV). The variants in the database will not include indels, common SNV or non-coding SNV.