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JoVE Journal Genetics
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

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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Summary
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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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Likelihood Variant Pathogenicity Amino Acid-level Signal-to-noise Analysis Genetic Variation Disease State Natural Genetic Variation Genetic Variant Population-based Exome And Genome Studies Ensembl Homepage Gene Of Interest Splice Isoform Identification Numbers Reference Sequence Column NCBI Protein Database Primary Protein Sequence Protein Features Minor Allele Frequency
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