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유전 변이의 아미노산 수준 신호-잡음 분석을 사용 하 여 Variant Pathogenicity의 가능성 확인
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JoVE Journal Genetik
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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유전 변이의 아미노산 수준 신호-잡음 분석을 사용 하 여 Variant Pathogenicity의 가능성 확인

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07:15 min

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January 16, 2019

DOI:

10.3791/58907-v

DOI:
10.3791/58907-v

•

07:15 min
January 16, 2019

•

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

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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Jones, E. G., Landstrom, A. P. Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation. J. Vis. Exp. (143), e58907, doi:10.3791/58907 (2019).

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