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Updated: Mar 23, 2026

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

Published on: January 16, 2019

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An Incomplete Understanding of Human Genetic Variation

John Huddleston1, Evan E Eichler2

  • 1Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195 Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195.

Genetics
|April 8, 2016
PubMed

Keywords:
copy number variationhuman genetic variationindelssegmental duplicationstructural variation

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