The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification
PS4-LRCalc enables flexible evidence quantitation on a continuous scale for observed case-control data. The converted LR is amenable to incorporation into the now widely used 2018 updated Bayesian ACMG/AMP framework.
Authors
- Trudi McDevitt (ORCID: https://orcid.org/0009-0008-2425-5194)
- Sheila Palmer-Smith
- Helen Hanson (ORCID: https://orcid.org/0000-0002-3303-8713)
- Sophie Allen (ORCID: https://orcid.org/0000-0003-4928-2240)
- Michael E. Jones (ORCID: https://orcid.org/0000-0001-7479-3451)
- Rachel Robinson (ORCID: https://orcid.org/0009-0005-9466-5891)
- Judith Pagan
- Alice Garrett (ORCID: https://orcid.org/0000-0001-8942-283X)
- Bethan Frugtniet
- Jonathan Grant (ORCID: https://orcid.org/0000-0002-1646-3486)
- Alison Callaway (ORCID: https://orcid.org/0000-0002-9236-7891)
- George J. Burghel (ORCID: https://orcid.org/0000-0001-9360-8194)
- Miranda Durkie (ORCID: https://orcid.org/0000-0001-7071-7048)
- Charlie F Rowlands (ORCID: https://orcid.org/0000-0001-5333-4846)
- Terri Patricia McVeigh (ORCID: https://orcid.org/0000-0001-9201-9216)
- Nicola Whiffin (ORCID: https://orcid.org/0000-0003-1554-6594)
- Joanne Field
- Clare Turnbull
Institutions
- Broad Institute (US)
- Cardiff and Vale University Health Board (GB)
- Royal Marsden NHS Foundation Trust (GB)
- Nottingham University Hospitals NHS Trust (GB)
- Institute of Cancer Research (GB)
- University of Exeter (GB)
- Leeds Teaching Hospitals NHS Trust (GB)
- Royal Devon & Exeter NHS Foundation Trust (GB)
- Western General Hospital (GB)
- NHS Greater Glasgow and Clyde (GB)
- University Hospital of Wales (GB)
- St George’s University Hospitals NHS Foundation Trust (GB)
- Open Data Institute (GB)
- University Hospital Southampton NHS Foundation Trust (GB)
- Children's Health Ireland at Crumlin (IE)
- University of Oxford (GB)
- Manchester University NHS Foundation Trust (GB)
- Sheffield Children's NHS Foundation Trust (GB)
- Queen Elizabeth University Hospital (GB)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2024-09-03
- DOI
- https://doi.org/10.1136/jmg-2024-110034
- Citations
- 3
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.65
Funders
- Wellcome Trust
- Cancer Research UK
- National Institute for Health and Care Research