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

07:15 min

January 16, 2019

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Capitoli

  • 00:04Titolo
  • 00:33Gene and Specific Splice Isoform Identification
  • 01:37Amino Acid Level Signal-to-Noise Calculation and Mapping
  • 03:55Protein Domain Topology and Variant Position Overlay
  • 05:42Results: Representative Amino Acid-Level Signal-to-Noise Analysis of KCNQ1-Encoded KCNQ1 (Kv7.1)
  • 06:56Conclusion

Summary

Traduzione automatica

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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