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The impact of GeneMatcher on international data sharing and collaboration. | LitMetric

AI Article Synopsis

  • - GeneMatcher is a global tool for connecting individuals interested in the same gene, facilitating collaborations for identifying novel disease genes and promoting data sharing, especially in low-resource areas.
  • - As of October 2021, the platform has over 12,500 users from 94 countries with more than 58,000 submissions, including 13,498 unique genes, leading to a total of 378,806 matches, which grow by about 10,000 each month.
  • - The number of unmatched unique genes has decreased from a peak of 4,371 in 2019 to 4,016 currently, indicating improvement even as submissions consistently increase each month.

Article Abstract

GeneMatcher (genematcher.org) is a tool designed to connect individuals with an interest in the same gene. Now used around the world to create collaborations and generate the evidence needed to support novel disease gene identification, GeneMatcher is a founding member of the Matchmaker Exchange (MME; matchmakerexchange.org) and strongest possible advocate for global data sharing including those in resource-limited environments. As of October 1, 2021, there are 12,531 submitters from 94 countries who have submitted 58,134 submissions with 13,498 unique genes in the database. Among these genes, 8970 (64%) have matched at least once and the total number of matches is 378,806, growing by about 10,000 per month. GeneMatcher submitters increase by 80-120 each month and submissions grow by >800 per month, while unique genes and gene matches continue to grow steadily at rate of about 80 per month. The number of genes without a match peaked at 4371 in February of 2019 and despite the increase in the number of new submissions, the number of unique genes without a match continues to slowly decline, currently standing at 4,016. All submissions in GeneMatcher are available for matching across the MME.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9133194PMC
http://dx.doi.org/10.1002/humu.24350DOI Listing

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