Waiting
Login processing...

Trial ends in Request Full Access Tell Your Colleague About Jove
Journal / Genetics / Bestemmelse af sandsynligheden for Variant…
JoVE Journal
Genetics

A subscription to JoVE is required to view this content.

JoVE Journal Genetics
Bestemmelse af sandsynligheden for Variant patogenicitet ved hjælp af aminosyre-niveau Signal-støj analyse af genetiske Variation
High-throughput Identification of Synergistic Drug Combinations by the Overlap2 Method
Journal (Genetics)
High-throughput Identification of Synergistic Drug Combinations by the Overlap2 Method
Characterization of In Vitro Differentiation of Human Primary Keratinocytes by RNA-Seq Analysis
Journal (Genetics)
Characterization of In Vitro Differentiation of Human Primary Keratinocytes by RNA-Seq Analysis
 
Click here for the English version

Bestemmelse af sandsynligheden for Variant patogenicitet ved hjælp af aminosyre-niveau Signal-støj analyse af genetiske Variation

Article DOI: 10.3791/58907-v • 07:15 min • January 16th, 2019
January 16th, 2019 •
1, 2
1Department of Pediatrics, Baylor College of Medicine, 2Department of Pediatrics, Division of Cardiology, Duke University School of Medicine

Chapters

Summary
Automatic Translation

Please note that all translations are automatically generated.

Click here for the English version.

Aminosyre-niveau signal-støj analyse bestemmer forekomsten af genetisk variation på en bestemt aminosyre position normaliseret til baggrunden genetiske variation af en given befolkning. Dette giver mulighed for identifikation af variant "hotspots" inden for et protein sekvens (signal), der stiger over hyppigheden af sjældne varianter findes i en population (støj).

Tags

Genetik spørgsmålet 143 genetisk analyse gentest mutation topologi variant af usikker betydning hele exome sekventering
Read Article

Get cutting-edge science videos from JoVE sent straight to your inbox every month.

Waiting X
Simple Hit Counter