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...

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Detalles Bibliográficos
Autores principales: Kelly, Catherine, Szabo, Anita, Pontikos, Nikolas, Arno, Gavin, Robinson, Peter N., Jacobsen, Jules O.B., Smedley, Damian, Cipriani, Valentina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
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

Internet

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

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