Related Experiment Video

Updated: May 13, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

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

Published on: January 16, 2019

How variants of uncertain significance affect clinical decisions: A systematic review

Shiv Ayappa1, Steven Joffe2, Anne-Marie Laberge3

  • 1Johns Hopkins School of Medicine, Baltimore, MD.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|May 12, 2026
PubMed
Abstract

Keywords:
Critical careEthicsGeneticsPediatrics

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