Article

De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders

2022-03-21

Abstract excerpt

Variant interpretation remains a major challenge in medical genetics. We developed Meta-Domain HotSpot (MDHS) to identify mutational hotspots across homologous protein domains. We applied MDHS to a dataset of 45,221 de novo mutations (DNMs) from 31,058 patients with neurodevelopmental disorders (NDDs) and identified three significantly enriched missense DNM hotspots in the ion transport protein domain family (PF00...

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Literature Corpus work: ccfd2b4d-8c58-5266-839a-b84c98f7d790
DOI: 10.1101/2022.03.19.22272594

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