Related Experiment Video

Updated: Jan 28, 2026

Targeted DNA Methylation Analysis by Next-generation Sequencing
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Targeted DNA Methylation Analysis by Next-generation Sequencing

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Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort

Célia Nogueira1, Lisbeth Silva2, Cristina Pereira3

  • 1Research & Development Unit, Human Genetics Department, National Institute of Health Doutor Ricardo Jorge, Porto, Portugal; Newborn Screening, Metabolism & Genetics Unit, Human Genetics Department, National Institute of Health Doutor Ricardo Jorge, Porto, Portugal.

Mitochondrion
|March 5, 2019
PubMed

Keywords:
Gene panelMitochondrial diseasesNext generation sequencingNuclear genesRespiratory chainmtDNA

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