Projects per year
We tested a benchtop device on retrospective genomic DNA (gDNA) samples of controls and patients with a clinical suspicion of a mitochondrial DNA disorder. This Ion Torrent PGM platform is a high throughput sequencer with a fast turn-around time and reasonable running costs. We challenged the chemistry and technology with the analysis and processing of a mutational spectrum composed of samples with single nucleotide substitutions, indels (insertions and deletions) and large single or multiple deletions, occasionally in heteroplasmy. The output data were compared with previously obtained conventional dideoxy sequencing results and the mitochondrial revised Cambridge Reference Sequence (rRCS). We were able to identify the majority of all nucleotide alterations, but three false negative results were also encountered in the data set. At the same time, the poor performance of the PGM instrument in regions associated with homopolymeric stretches generated many false positive miscalls demanding additional manual curation of the data.
|Journal||Eur J Hum Genet|
|Publication status||Published - 2015|
- Ion Torent PGM
- mt disease
- sequence heteroplasmy detection
FingerprintDive into the research topics of 'Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?'. Together they form a unique fingerprint.
- 1 Finished
OZR1216: Molecular investigations in the patients with defects in the complexes of the oxidative phosphorylation and the pyruvate dehydrogenase complex.
De Meirleir, L., Lissens, W., Seneca, S. & De Meirleir, L.
1/01/06 → 31/12/08