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

Edward G Jones; Andrew P Landstrom

doi:10.3791/58907

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

JoVE Journal
Genetics

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JoVE Journal Genetics

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

10,824 Views

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07:15 min

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January 16, 2019

DOI:

10.3791/58907-v

DOI:

10.3791/58907-v

•

07:15 min

January 16, 2019

•

2 Views

Edward G Jones¹, Andrew P Landstrom²

¹Department of Pediatrics,Baylor College of Medicine, ²Department of Pediatrics, Division of Cardiology,Duke University School of Medicine

Summary

Amino acid-level signal-to-noise analysis determines the prevalence of genetic variation at a given amino acid position normalized to background genetic variation of a given population. This allows for identification of variant "hotspots" within a protein sequence (signal) that rises above the frequency of rare variants found in a population (noise).

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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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