Article
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research.
Human mutation - 1 Jun 2022
Foreman Julia, Brent Simon, Perrett Daniel, Bevan Andrew P, Hunt Sarah E, Cunningham Fiona, Hurles Matthew E, Firth Helen V
Abstract excerpt
DECIPHER (https://www.deciphergenomics.org) is a free web platform for sharing anonymized phenotype-linked variant data from rare disease patients. Its dynamic interpretation interfaces contextualize genomic and phenotypic data to enable more informed variant interpretation, incorporating international standards for variant classification. DECIPHER supports almost all types of germline and mosaic variation in the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.