Additional file 1 of Recommendations for clinical interpretation of variants found in non-coding regions of the genome
Year: 2022
Type: dataset
Abstract: Additional file 1: Table S1. Variants used to test usability of guidelines. Table S2. Questions and responses from the UK Association for Clinical Genomic Science (ACGS) meeting. Table S3. Overview of recommendations for all ACMG/AMP rules. Table S4. Accessibility of in silico tools for genome-wide variant prioritisation.
Source: Figshare
Authors: Ellingford, Jamie M., Ahn, Joo Wook, Bagnall, Richard D., Baralle, Diana, Barton, Stephanie, Campbell, Chris, Downes, Kate, Ellard, Sian, Duff-Farrier, Celia, FitzPatrick, David R., Greally, John M., Ingles, Jodie, Krishnan, Neesha, Lord, Jenny, Martin, Hilary C., Newman, William G., O’Donnell-Luria, Anne, Ramsden, Simon C., Rehm, Heidi L., Richardson, Ebony, Singer-Berk, Moriel, Taylor, Jenny C., Williams, Maggie, Wood, Jordan C., Wright, Caroline F., Harrison, Steven M., Whiffin, Nicola
Institutions: University of Manchester, Manchester University NHS Foundation Trust, Genomics England, Cambridge University Hospitals NHS Foundation Trust, The University of Sydney, University Hospital Southampton NHS Foundation Trust, University of Southampton, University of Cambridge, University of Exeter, Royal Devon & Exeter NHS Foundation Trust, North Bristol NHS Trust, Western General Hospital, Institute of Genetics and Cancer, Medical Research Council, University of Edinburgh, Albert Einstein College of Medicine, UNSW Sydney, Murdoch Children's Research Institute, Wellcome Sanger Institute, National Health Service, St Mary's Hospital, Broad Institute, Boston Children's Hospital, Massachusetts General Hospital, University of Oxford, Ambry Genetics (United States)
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W4394180255