Ensemble and consensus approaches to prediction of recessive inheritance for missense variants in human disease
Summary: Mode of inheritance (MOI) is necessary for clinical interpretation of pathogenic variants; however, the majority of variants lack this information. Furthermore, variant effect predictors are fundamentally insensitive to recessive-acting diseases. Here, we present MOI-Pred, a variant pathoge...
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| Hlavní autoři: | , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Elsevier
2024-12-01
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| Edice: | Cell Reports: Methods |
| Témata: | |
| On-line přístup: | http://www.sciencedirect.com/science/article/pii/S2667237524003047 |
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