| Literature DB >> 34994928 |
Fiana Ní Ghrálaigh1,2, Ellen McCarthy3, Daniel N Murphy3, Louise Gallagher4, Lorna M Lopez3.
Abstract
Autism is a prevalent neurodevelopmental condition, highly heterogenous in both genotype and phenotype. This communication adds to existing discussion of the heterogeneity of clinical sequencing tests, "gene panels", marketed for application in autism. We evaluate the clinical utility of available gene panels based on existing genetic evidence. We determine that diagnostic yields of these gene panels range from 0.22% to 10.02% and gene selection for the panels is variable in relevance, here measured as percentage overlap with SFARI Gene and ranging from 15.15% to 100%. We conclude that gene panels marketed for use in autism are currently of limited clinical utility, and that sequencing with greater coverage may be more appropriate.Entities:
Keywords: Autism; Genomics; Panel; Sequencing; Utility
Year: 2022 PMID: 34994928 DOI: 10.1007/s10803-021-05417-7
Source DB: PubMed Journal: J Autism Dev Disord ISSN: 0162-3257