A gene pathogenicity tool ‘GenePy’ identifies missed biallelic diagnoses in the 100,000 Genomes Project

The 100,000 Genomes Project (100KGP) diagnosed a quarter of recruited affected participants, but 26% of diagnoses were in genes not on the chosen gene panel(s); with many being de novo variants of high impact. However, assessing biallelic variants without a gene panel is challenging, due to the numb...

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Detalles Bibliográficos
Autores principales: Seaby, Eleanor G., Leggatt, Gary, Cheng, Guo, Thomas, N. Simon, Ashton, James J, Stafford, Imogen, Baralle, Diana, Rehm, Heidi L., O’Donnell-Luria, Anne, Ennis, Sarah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10081430/
https://www.ncbi.nlm.nih.gov/pubmed/37034701
http://dx.doi.org/10.1101/2023.03.21.23287545

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10081430/
https://www.ncbi.nlm.nih.gov/pubmed/37034701
http://dx.doi.org/10.1101/2023.03.21.23287545

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