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...

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Detalles Bibliográficos
Autores principales: Jacobsen, Julius O. B., Kelly, Catherine, Cipriani, Valentina, Research Consortium, Genomics England, Mungall, Christopher J., Reese, Justin, Danis, Daniel, Robinson, Peter N., Smedley, Damian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Review
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

Internet

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

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