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

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

Article DOI: 10.3791/58907-v • 07:15 min • January 16th, 2019
January 16th, 2019 •
1, 2
1Department of Pediatrics, Baylor College of Medicine, 2Department of Pediatrics, Division of Cardiology, Duke University School of Medicine

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요약
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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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Keywords: Amino Acid Signal-to-noise Analysis Genetic Variation Variant Pathogenicity Disease-associated Mutations Population-based Exome/genome Studies Ensembl Gene/ ID NCBI Protein Database Minor Allele Frequency Rolling Average
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