MyGene2 and Geno2MP
MyGene2 is a web-based platform that enables families, clinicians, and
researchers to share genetic information such as candidate
genes/variants and phenotypic data publicly with the goal of
facilitating rare disease research such as novel disease gene discovery
and genotype/phenotype relationship studies. Families can share their
own identifiable health and genetic information and clinicians and
researchers can use MyGene2 to share de-identified health and candidate
gene/variant information on behalf of families with Mendelian
conditions. Information about each family is organized into a
“Profile.” All profiles are publicly searchable, and all stakeholders
have the same level of access to the data shared through the site. To
help families share their data and make matches with others interested
in the same candidate genes or Mendelian conditions, MyGene2 uses
concept recognition software to automatically extract structured
phenotype terms from narratives submitted by families and variant
validation software to assist families in submitting their candidate
variants to the site. MyGene2 currently hosts ~5000
family profiles that share candidate gene/variant and reported clinical
findings and shares all variants through Beacon Network, a search engine
across the global network of Beacons enabling discovery of genetic
variants of interest around the world (Fiume et al. 2019). Beacon
Network users can visit the MyGene2 profiles for any variant identified
through a search of the Network.
Geno2MP is a web-accessible, searchable database containing rare variant
genotypes linked to phenotypic information developed by the University
of Washington Center for Mendelian Genomics to publicly share all rare
(<2.5% alternate allele frequency in gnomAD v2.1 or v3.0)
sequence variants identified in individuals affected by suspected
Mendelian conditions and/or in their putatively unaffected relatives
alongside de-identified phenotype data describing the affected status
and original phenotype of interest for which each family was
ascertained. As of October 1, 2021, Geno2MP shares variant zygosity and
phenotype data from 19,344 individuals sequenced by one of the
University of Washington, Broad, or Yale Centers for Mendelian Genomics.
Geno2MP can be searched by gene, chromosomal coordinates, or HPO term,
and a bulk sites-only VCF is available for download. The Geno2MP dataset
will eventually be integrated into MyGene2 in order to make its data
available for matchmaking/querying via the future variant-level
Matchmaker Exchange and the Beacon Network. This will also enable users
to sign up to be notified about future variant matches.