Article
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Journal of translational medicine - 12 Jun 2016
Pronicka Ewa, Piekutowska-Abramczuk Dorota, Ciara Elżbieta, Trubicka Joanna, Rokicki Dariusz, Karkucińska-Więckowska Agnieszka, Pajdowska Magdalena, Jurkiewicz Elżbieta, Halat Paulina, Kosińska Joanna, Pollak Agnieszka, Rydzanicz Małgorzata, Stawinski Piotr, Pronicki Maciej, Krajewska-Walasek Małgorzata, Płoski Rafał
Abstract excerpt
BACKGROUND: Whole-exome sequencing (WES) has led to an exponential increase in identification of causative variants in mitochondrial disorders (MD). METHODS: 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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.