Amino Acid Level Signal-to-Noise Calculation and Mapping
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Protein Domain Topology and Variant Position Overlay
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Results: Representative Amino Acid-Level Signal-to-Noise Analysis of KCNQ1-Encoded KCNQ1 (Kv7.1)
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Conclusion
Transkript
Amino acid-level signal-to-noise analysis, provides a measure of the likelihood that a genetic variant is associated with a disease state, or is part of natural genetic variation within the population. This technique leverages two large genetic re
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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).