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Phenotype-aware prioritisation of rare Mendelian disease variants
A molecular diagnosis from the analysis of sequencing data in rare Mendelian diseases has a huge impact on the management of patients and their families. Numerous patient phenotype-aware variant prioritisation (VP) tools have been developed to help automate this process, and shorten the diagnostic o...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9950798/ https://www.ncbi.nlm.nih.gov/pubmed/35934592 http://dx.doi.org/10.1016/j.tig.2022.07.002 |