Fast and Easy Nanopore Sequencing Workflow for Rapid Genetic Testing of Familial Hypercholesterolemia

Fast and Easy Nanopore Sequencing Workflow for Rapid Genetic Testing of Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is an autosomal dominant lipid metabolism disorder characterized by severely elevated plasma low-density lipoprotein cholesterol levels. The disease is caused by mutations in 3 genes (LDLR, APOB and PCSK9) while over 90% of the mutations are located within the LDLR...

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Bibliographic Details
Main Authors: Muhidien Soufi, Simon Bedenbender, Volker Ruppert, Bilgen Kurt, Bernhard Schieffer, Juergen R. Schaefer
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-02-01
Series:Frontiers in Genetics
Subjects:
familial hypercholesterolemia
LDL receptor
rapid genetic testing
oxford nanopore sequencing
long amplicon sequencing
genetic diagnosis
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.836231/full

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