Article
The MinION as a cost-effective technology for diagnostic screening of the SCN1A gene in epilepsy patients.
Epilepsy research - 1 May 2021
Ngo Thi Tuyet Dieu, Lea Rodney A, Maksemous Neven, Eccles David A, Smith Robert A, Dunn Paul J, Thao Van Cao, Ha Thi Minh Thi, Bùi Chi Bao, Haupt Larisa M, Scott Rodney, Griffiths Lyn R
Abstract excerpt
The MinION is a portable DNA sequencer that allows real time sequencing at low capital cost investment. We assessed accuracy and cost-effectivess of the MinION for genetic diagnostic testing of known SCN1A mutations that cause Dravet Syndrome (DS). DNA samples (n = 7) from DS patients previously shown to carry SCN1A mutations via Ion Torrent and Sanger sequencing were sequenced using the MinION. SCN1A amplicons...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.