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

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

doi:10.1136/jmg-2024-110034

Abstract

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.

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Rowlands et al. (2024) studied this question.

synapsesocial.com/papers/68e597e1b6db643587532b2b https://doi.org/10.1136/jmg-2024-110034

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

Abstract

Discussion

Cite This Study

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

Abstract

Discussion

Cite This Study

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