A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

BACKGROUND: Genomic variants which disrupt splicing are a major cause of rare genetic diseases. However, variants which lie outside of the canonical splice sites are difficult to interpret clinically. Improving the clinical interpretation of non-canonical splicing variants offers a major opportunity...

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Detalles Bibliográficos
Autores principales: Blakes, Alexander J. M., Wai, Htoo A., Davies, Ian, Moledina, Hassan E., Ruiz, April, Thomas, Tessy, Bunyan, David, Thomas, N. Simon, Burren, Christine P., Greenhalgh, Lynn, Lees, Melissa, Pichini, Amanda, Smithson, Sarah F., Taylor Tavares, Ana Lisa, O’Donovan, Peter, Douglas, Andrew G. L., Whiffin, Nicola, Baralle, Diana, Lord, Jenny
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9327385/
https://www.ncbi.nlm.nih.gov/pubmed/35883178
http://dx.doi.org/10.1186/s13073-022-01087-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9327385/
https://www.ncbi.nlm.nih.gov/pubmed/35883178
http://dx.doi.org/10.1186/s13073-022-01087-x

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