New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre

@inproceedings{Pronicka2016NewPI,
  title={New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre},
  author={Ewa Pronicka and Dorota Piekutowska-Abramczuk and Elżbieta Ciara and Joanna Trubicka and Dariusz Rokicki and Agnieszka Karkucińska-Więckowska and Magdalena Pajdowska and Elżbieta Jurkiewicz and Paulina Halat and Joanna Kosińska and Agnieszka Pollak and Małgorzata Rydzanicz and Piotr Stawinski and Maciej Pronicki and Małgorzata Krajewska-Walasek and Rafał Płoski},
  booktitle={Journal of Translational Medicine},
  year={2016}
}
Whole-exome sequencing (WES) has led to an exponential increase in identification of causative variants in mitochondrial disorders (MD). We performed WES in 113 MD suspected patients from Polish paediatric reference centre, in whom routine testing failed to identify a molecular defect. WES was performed using TruSeqExome enrichment, followed by variant prioritization, validation by Sanger sequencing, and segregation with the disease phenotype in the family. Likely causative mutations were… CONTINUE READING
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