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Article

Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study.

Journal of medical genetics - 27 May 2025

Selvanayagam Thanuja, Hoang Ny, Sarikaya Ege, Howe Jennifer, Russell Carolyn, Iaboni Alana, Quirbach Morgan, Marshall Christian R, Szatmari Peter, Anagnostou Evdokia, Vorstman Jacob, Hartley Dean M, Scherer Stephen W

Abstract excerpt

BACKGROUND: Genetics is an important contributor to autism spectrum disorder (ASD). Clinical guidelines endorse genetic testing in the medical workup of ASD, particularly tests that use whole genome sequencing (WGS) technology. While the clinical utility of genetic testing in ASD is demonstrated, the breadth of impact of results can depend on the variant and/or gene being reported. METHODS: We reviewed research...

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Topics

Humans
Whole Genome Sequencing
Autism Spectrum Disorder
Genomics
Genetic Testing

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Male

Female

Autistic Disorder

Genetic Predisposition to Disease

Genetic Counseling

Child

Source

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Identifiers

PMID: 40169255
DOI: 10.1136/jmg-2024-110463
PMCID: PMC12116238

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