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Journal of Cardiovascular Translational Research

Erschienen in:

01.02.2014

Non Optical Semi-Conductor Next Generation Sequencing of the Main Cardiac QT-Interval Duration Genes in Pooled DNA Samples

verfasst von: Juan Gómez, Julian R. Reguero, César Morís, Victoria Alvarez, Eliecer Coto

Erschienen in: Journal of Cardiovascular Translational Research | Ausgabe 1/2014

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Abstract

DNA variants at the genes encoding cardiac channels have been associated with inherited arrhythmias and the QT interval in the general population. Next generation sequencing technologies would be of special interest to uncover the genetic variation at these genes. The amplification and sequencing of DNA pools (instead of single individuals) would facilitate the rapid and cost-effective screening of large amounts of individuals. However, this pooling strategy could result in a signal of the rare variants below the detection capacity. To validate this approach, a pool of 20 individuals with known rare unique variants in five genes was amplified in only two tubes and sequenced using the non optical semi-conductor (Ion Torrent PGM, Life Technologies) technology. We show that this could be an effective strategy for the screening of large cohorts. Among others, this would facilitate the discovery of new sequence variants linked to cardiac arrhythmia in the general population.

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Titel: Non Optical Semi-Conductor Next Generation Sequencing of the Main Cardiac QT-Interval Duration Genes in Pooled DNA Samples
verfasst von: Juan Gómez
Julian R. Reguero
César Morís
Victoria Alvarez
Eliecer Coto
Publikationsdatum: 01.02.2014
Verlag: Springer US
Erschienen in: Journal of Cardiovascular Translational Research / Ausgabe 1/2014
Print ISSN: 1937-5387
Elektronische ISSN: 1937-5395
DOI: https://doi.org/10.1007/s12265-013-9516-6

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