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An expanded phenotype centric benchmark of variant prioritisation tools
Identifying the causal variant for diagnosis of genetic diseases is challenging when using next‐generation sequencing approaches and variant prioritization tools can assist in this task. These tools provide in silico predictions of variant pathogenicity, however they are agnostic to the disease unde...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9313608/ https://www.ncbi.nlm.nih.gov/pubmed/35224813 http://dx.doi.org/10.1002/humu.24362 |