Publication date: Apr 15, 2025
Discerning clinically relevant autism spectrum disorder (ASD) candidate variants from whole-exome sequencing (WES) data is complex, time-consuming, and labor-intensive. To this end, we developed AutScore, an integrative prioritization algorithm of ASD candidate variants from WES data and assessed its performance to detect clinically relevant variants. We studied WES data from 581 ASD probands, and their parents registered in the Azrieli National Center database for Autism and Neurodevelopment Research. We focused on rare allele frequency (
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Semantics
| Type | Source | Name |
|---|---|---|
| disease | MESH | autism spectrum disorder |
| disease | MESH | Autism |
| disease | MESH | neurodevelopmental disorders |
| disease | MESH | clinical relevance |
| drug | DRUGBANK | Coenzyme M |
| drug | DRUGBANK | Saquinavir |
| drug | DRUGBANK | Nonoxynol-9 |
| disease | MESH | intellectual disability |
| drug | DRUGBANK | N-acetylsulfanilyl chloride |
| disease | MESH | etiology |
| disease | MESH | Schizophrenia |
| disease | MESH | psychiatric disorders |
| disease | MESH | bipolar disorder |
| drug | DRUGBANK | Guanosine |
| drug | DRUGBANK | Huperzine B |
| disease | MESH | emergency |
| disease | MESH | genetic diseases |
| pathway | REACTOME | Reproduction |
Original Article
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