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Bepaling van de waarschijnlijkheid van Variant pathogeniteit met behulp van aminozuur-niveau Signal-to-Noise analyse van genetische variatie

JoVE Journal
Genetik

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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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Bepaling van de waarschijnlijkheid van Variant pathogeniteit met behulp van aminozuur-niveau Signal-to-Noise analyse van genetische variatie

10,805 Views

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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

Edward G Jones, Andrew P Landstrom

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

Tags

Amino Acid Signal-to-noise Analysis Genetic Variation Variant Pathogenicity Disease-associated Mutations Population-based Exome/genome Studies Ensembl Gene/transcript ID NCBI Protein Database Minor Allele Frequency Rolling Average

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