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Deep multiple-instance learning accurately predicts gene haploinsufficiency and deletion pathogenicity
Copy number losses (deletions) are a major contributor to the etiology of severe genetic disorders. Although haploinsufficient genes play a critical role in deletion pathogenicity, current methods for deletion pathogenicity prediction fail to integrate multiple lines of evidence for haploinsufficien...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Cold Spring Harbor Laboratory
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10491176/ https://www.ncbi.nlm.nih.gov/pubmed/37693607 http://dx.doi.org/10.1101/2023.08.29.555384 |