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Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity
We used a machine learning approach to analyze the within-gene distribution of missense variants observed in hereditary conditions and cancer. When applied to 840 genes from the ClinVar database, this approach detected a significant non-random distribution of pathogenic and benign variants in 387 (4...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8948164/ https://www.ncbi.nlm.nih.gov/pubmed/35120630 http://dx.doi.org/10.1016/j.ajhg.2022.01.006 |