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

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

Abstract 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 opp...

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Bibliographic Details
Main Authors: Alexander J. M. Blakes, Htoo A. Wai, Ian Davies, Hassan E. Moledina, April Ruiz, Tessy Thomas, David Bunyan, N. Simon Thomas, Christine P. Burren, Lynn Greenhalgh, Melissa Lees, Amanda Pichini, Sarah F. Smithson, Ana Lisa Taylor Tavares, Peter O’Donovan, Andrew G. L. Douglas, Genomics England Research Consortium, Splicing and Disease Working Group, Nicola Whiffin, Diana Baralle, Jenny Lord
Format: Article
Language:English
Published: BMC 2022-07-01
Series:Genome Medicine
Online Access:https://doi.org/10.1186/s13073-022-01087-x

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https://doi.org/10.1186/s13073-022-01087-x

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