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Our "Atlas of Variant Effects 2030 Roadmap" is live: zenodo.org/records/1542... 1/n
May 15, 2025
zenodo.org
At the Clinical Atlas of Variant Effects meeting (CLAVE meeting, July 2024, Pittsburgh USA), we developed recommendations for a draft atlas that can be realized by 2030, with a focus on empowering gen...
Atlas of Variant Effects 2030 Roadmap: resolving human variants of uncertain significance
Doug Fowler