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
About this item
Full title
Author / Creator
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 and Genomics England Research Consortium, Splicing and Disease Working Group
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
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...
Alternative Titles
Full title
A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project
Authors, Artists and Contributors
Author / Creator
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
Genomics England Research Consortium, Splicing and Disease Working Group
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_dfdeeb798f424c30af5b1c761fbdb704
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_dfdeeb798f424c30af5b1c761fbdb704
Other Identifiers
ISSN
1756-994X
E-ISSN
1756-994X
DOI
10.1186/s13073-022-01087-x
