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遗传变异的氨基酸级信噪比分析确定变异致病性的可能性
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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
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遗传变异的氨基酸级信噪比分析确定变异致病性的可能性

DOI:
10.3791/58907-v

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07:15 min

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January 16, 2019

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

Chapters

  • 00:04Title
  • 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

Automatic Translation

Automatic Translation

氨基酸水平信噪比分析确定了在给定氨基酸位置的遗传变异的流行率归一化为特定种群的背景遗传变异。这样就可以识别蛋白质序列 (信号) 中的变种 "热点", 这些变化高于在人群 (噪声) 中发现的罕见变种的频率。

Tags

Amino AcidSignal-to-noise AnalysisGenetic VariationVariant PathogenicityDisease-associated MutationsPopulation-based Exome/genome StudiesEnsemblGene/transcript IDNCBI Protein DatabaseMinor Allele FrequencyRolling Average

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