Article
Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery.
Human mutation - 1 Nov 2022
Lewis-Smith David, Parthasarathy Shridhar, Xian Julie, Kaufman Michael C, Ganesan Shiva, Galer Peter D, Thomas Rhys H, Helbig Ingo
Abstract excerpt
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 integrate meaningful measurements of clinical phenotypic features. While standardization has enabled generation and interpretation of genomic data...
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