Director of Program Operations for the Center for the Multiplex Assessment of Phenotype (CMAP), the Center for Actionable Variant Analysis (CAVA) and the Atlas of Variant Effects Alliance.
"In the context of genetic conditions, even minor changes in the genetic code can have profound implications for a child’s development. Our approach, which goes beyond computation to assess the effect of mutations, overcomes this diagnostic challenge to reliably distinguish between harmless and harmful rare genetic changes. We hope to apply this technique to other genes, unlocking essential insights hidden within our genetic code.” Dr Sebastian Gerety - Wellcome Sanger Institute and University of Cambridge https://lnkd.in/g59FBhvy #RareDisease #FunctionalGenomics
