Article

Gene Specific Pathogenicity Predictor for Chromatin-Remodeling BAF Complex-Associated Neurodevelopmental Disorders

2025-09-17

Abstract excerpt

Advancements in whole genome sequencing have increased the number of variants of uncertain significance (VUS) identified in patient genomes. This has created a diagnostic bottleneck for genetic counselors tasked with sifting through these variants and determining those most likely to be causative for a patient's clinical presentation. Machine learning (ML) tools can aid in identifying pathogenic variants from VUS,...

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Literature Corpus work: 506049b9-332a-58c4-9279-f936a758d93b
DOI: 10.1101/2025.09.11.675179

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