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Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease
Rare disease diagnostics and disease gene discovery have been revolutionized by whole‐exome and genome sequencing but identifying the causative variant(s) from the millions in each individual remains challenging. The use of deep phenotyping of patients and reference genotype−phenotype knowledge, alo...
| 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/PMC9288531/ https://www.ncbi.nlm.nih.gov/pubmed/35391505 http://dx.doi.org/10.1002/humu.24380 |