Sunday, April 13 | 9–10 a.m.
Nara Lygia de Macena Sobreira, M.D., Ph.D., Johns Hopkins University School of Medicine
GeneMatcher and VariantMatcher are freely available web-based tools developed to connect individuals worldwide interested in a specific variant. They enable the sharing of de-identified gene-level, variant-level, and phenotypic data from research participants to discover disease-causing variants and genes. GeneMatcher and VariantMatcher are also connected to other databases to facilitate gene discovery through GA4GH and MatchMaker Exchange projects.
After attending this presentation, participants should be able to:
• Apply data-sharing tools in the analysis of exome and genome sequencing data.
• Recognize the differences among cytogenetic data-sharing tools for the identification of genome variation.
• Choose the most appropriate data-sharing tools for patients with genetic diseases.
The program includes sessions, networking opportunities, industry spotlights and more.
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