Phenotypes & Genotypes SIG Seminar

In this seminar, Nara Sobreira, PhD, MD will present tools used to prioritize causative variants in the analysis of coding and non-coding variants when analyzing genomic data. The tools include PhenoDB, GeneMatcher, and VariantMatcher. PhenoDB is an accessible, freely available, web-based platform that allows users to store, share, analyze, and interpret their patients' phenotypes and variants from ES/GS data using a wide range of annotations and AI tools that facilitate the connection of causative genes to the phenotypes being investigated. GeneMatcher is accessible to all stakeholders as a web-based tool developed to connect individuals (researchers, clinicians, health care providers, and patients) around the globe with an interest in the same gene(s), variant(s), or phenotype(s). Finally, VariantMatcher was developed to enable public sharing of variant-level data and phenotypic information from individuals sequenced as part of multiple disease gene discovery projects. Dr. Nara Sobreira will explore the GA4GH tools used to connect these databases to others worldwide as part of the Matchmaker Exchange project.

Overview of Presentation:

• Introduce PhenoDB and outline a typical PhenoDB analysis pipeline.
• Describe GeneMatcher and highlight the ways it has facilitated disease gene discovery.
• Discuss VariantMatcher and the benefits of connecting databases that share variant-level and phenotypic information.