Case Report: BMPR2-Targeted MinION Sequencing as a Tool for Genetic Analysis in Patients With Pulmonary Arterial Hypertension

Case Report: BMPR2-Targeted MinION Sequencing as a Tool for Genetic Analysis in Patients With Pulmonary Arterial Hypertension

Background: Mutations in the bone morphogenetic protein receptor type 2 gene (BMPR2) represent a major genetic cause of pulmonary arterial hypertension (PAH). Identification of BMPR2 mutations is crucial for the genetic diagnosis of PAH. MinION nanopore sequencer is a portable third-generation techn...

Full description

Bibliographic Details
Main Authors: Tomoya Takashima, Sophie Brisset, Asuka Furukawa, Hirohisa Taniguchi, Rika Takeyasu, Akio Kawamura, Yuichi Tamura
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-09-01
Series:Frontiers in Cardiovascular Medicine
Subjects:
nanopore sequencing
MinION
BMPR2
PAH
next generation sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fcvm.2021.711694/full

Internet

https://www.frontiersin.org/articles/10.3389/fcvm.2021.711694/full

Similar Items