Work

Availability of benign missense variant “truthsets” for validation of functional assays: Current status and a systematic approach

Year: 2025

Type: article

Source: The American Journal of Human Genetics

DOI: 10.1016/j.ajhg.2025.08.014

Authors: Charlie F. Rowlands, Sophie Allen, Alice Garrett, Miranda Durkie, George J. Burghel, Rachel Robinson, Alison Callaway, Joanne Field, Bethan Frugtniet, Sheila Palmer-Smith, Jonathan Grant, Judith Pagan, Trudi McDevitt, Katie Snape, Helen Hanson, Terri McVeigh, Clare Turnbull, CanVIG-UK

Institutions: Institute of Cancer Research, Institute of Cancer Research, St George’s University Hospitals NHS Foundation Trust, Sheffield Children's NHS Foundation Trust, Sheffield Children's Hospital, University of Manchester, Manchester University NHS Foundation Trust, Leeds Teaching Hospitals NHS Trust, University Hospital Southampton NHS Foundation Trust, Nottingham University Hospitals NHS Trust, Cardiff and Vale University Health Board, NHS Greater Glasgow and Clyde, Queen Elizabeth University Hospital, Western General Hospital, Children's Health Ireland at Crumlin, University of Exeter, Royal Devon & Exeter NHS Foundation Trust, Royal Devon University Healthcare NHS Foundation Trust, Royal Marsden NHS Foundation Trust

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funder: Cancer Research UK

Awards: G2698464496, G5174455661, G7279255488

OpenAlex ID: W4414057696

FWCI: 2.679

Cites: 36

Cited by: 6

Related to: 10