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Article

The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.

Journal of medical genetics - 24 Sept 2024

Rowlands Charlie F, Garrett Alice, Allen Sophie, Durkie Miranda, Burghel George J, Robinson Rachel, Callaway Alison, Field Joanne, Frugtniet Bethan, Palmer-Smith Sheila, Grant Jonathan, Pagan Judith, McDevitt Trudi, McVeigh Terri P, Hanson Helen, Whiffin Nicola, Jones Michael, Turnbull Clare

Abstract excerpt

BACKGROUND: The 2015 American College of Medical Genetics/Association of Molecular Pathology (ACMG/AMP) variant classification framework specifies that case-control observations can be scored as 'strong' evidence (PS4) towards pathogenicity. METHODS: We developed the PS4-likelihood ratio calculator (PS4-LRCalc) for quantitative evidence assignment based on the observed variant frequencies in cases and controls....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39227160
DOI: 10.1136/jmg-2024-110034
PMCID: PMC11503184

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