Additional file 4 of A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project
dataset
posted on 2022-07-27, 06:52 authored by 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, Nicola Whiffin, Diana Baralle, Jenny LordAdditional file 4. Table S3. Experimentally validated branchpoints.
Funding
National Institute for Health Research Wessex Medical Research Wellcome Trust Rosetrees Trust Health Education England
History
Usage metrics
Categories
Keywords
uplift diagnostic yieldsunsolved rare diseasesunsolved rare diseaserare genetic diseasesmanual phenotype matchinglevel constraint metricknown disease genesde novo single000 genomes projectidentify new diagnosescanonical splice sitesgenome sequencing datafunctional rna studiesputative splicing branchpointscanonical splicing variantsclinical variant interpretationsequencing datarna studiessplicing branchpointsclinical interpretationsplice positionsnew diagnosissplicing variantsdisrupt splicingclinical valuesystematic analysispurifying selectionmajor opportunitymajor causelie outsideinterpret clinicallyincluding fourhighly constrainedconclusions overallcoding variantsadjusted proportion
Licence
Exports
RefWorks
BibTeX
Ref. manager
Endnote
DataCite
NLM
DC