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Clinical use of NGS data from the targeted gene panel for mitochondrial diseases screening.

Computer methods and programs in biomedicine - 1 Oct 2020

Płoszaj Tomasz, Antosik Karolina, Młudzik Paulina, Traczyk-Borszyńska Magdalena, Borowiec Maciej

Abstract excerpt

BACKGROUND AND OBJECTIVE: Mitochondrial diseases are a frequent cause of inherited genetic disorders caused by mutations in both the mitochondrial and nuclear human genome. The new technique of high-throughput sequencing, which is used more and more frequently around the world, is most often focused on nuclear DNA. In some cases, such data after proper IT processing could also allow to determine alterations in...

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PMID: 32470904
DOI: 10.1016/j.cmpb.2020.105529

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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