Related Experiment Video

Updated: Jun 19, 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

Digenic variant interpretation with hypothesis-driven explainable AI

Federica De Paoli1, Giovanna Nicora1, Silvia Berardelli1,2

  • 1enGenome Srl, Via Ferrata 5, 27100, Pavia, Italy.

NAR Genomics and Bioinformatics
|March 31, 2025
PubMed
Abstract

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