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ERIC Number: EJ1364513
Record Type: Journal
Publication Date: 2023-Jan
Pages: 5
Abstractor: As Provided
ISBN: N/A
ISSN: ISSN-0162-3257
EISSN: EISSN-1573-3432
Available Date: N/A
Brief Report: Evaluating the Diagnostic Yield of Commercial Gene Panels in Autism
Ní Ghrálaigh, Fiana; McCarthy, Ellen; Murphy, Daniel N.; Gallagher, Louise; Lopez, Lorna M.
Journal of Autism and Developmental Disorders, v53 n1 p484-488 Jan 2023
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.
Springer. Available from: Springer Nature. One New York Plaza, Suite 4600, New York, NY 10004. Tel: 800-777-4643; Tel: 212-460-1500; Fax: 212-460-1700; e-mail: customerservice@springernature.com; Web site: https://link.springer.com/
Publication Type: Journal Articles; Reports - Research
Education Level: N/A
Audience: N/A
Language: English
Sponsor: N/A
Authoring Institution: N/A
Grant or Contract Numbers: N/A
Author Affiliations: N/A