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Updated: Nov 29, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

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Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus

Alice Garrett1, Miranda Durkie2, Alison Callaway3,4

  • 1Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, London, UK.

Journal of Medical Genetics
|November 19, 2020
PubMed

Keywords:
genetic testinggenetic variationgeneticsgenomicsmedical

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