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BIBTEX RIS

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

2022; BioMed Central; Volume: 14; Issue: 1 Linguagem: Inglês

10.1186/s13073-022-01087-x

ISSN

1756-994X

Autores

Alexander J. M. Blakes, Htoo A. Wai, Ian Davies, Hassan E. Moledina, April Ruiz, Tessy Thomas, David J. Bunyan, N. Simon Thomas, Christine Burren, Lynn Greenhalgh, Melissa Lees, Amanda Pichini, Sarah Smithson, Ana Lisa Taylor Tavares, Peter O’Donovan, Andrew G. L. Douglas, Nicola Whiffin, Diana Baralle, Jenny Lord,

Tópico(s)

RNA modifications and cancer

Resumo

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 to uplift diagnostic yields from whole genome sequencing data.

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