Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24389
Abstract: Making a specific diagnosis in neurodevelopmental disorders is traditionally based on recognizing clinical features of a distinct syndrome, which guides testing of its possible genetic etiologies. Scalable frameworks for genomic diagnostics, however, have struggled to… read more here.
Keywords: analysis neurodevelopmental; phenotypes harmonization; computational analysis; harmonization empowers ... See more keywords