Study

ESGI___Molecular_diagnosis_for_mitochondrial_disorders_

Study ID Alternative Stable ID Type
EGAS00001000164 Other

Study Description

The MITOEXME project aims to improve protocols for molecular diagnosis of patients with OXPHOS disorders with a focus on a next generation sequencing methods and to increase the knowledge of pahtophysiological mechanisms by identification of new targets and cellular studies. In this project we will sequence the exomes fo 120 patients.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001003596
The MITOEXME project aims to improve protocols for molecular diagnosis of patients with OXPHOS disorders with a focus on a next generation sequencing methods and to increase the knowledge of pahtophysiological mechanisms by identification of new targets and cellular studies. In this project we will sequence the exomes fo 120 patients. This dataset contains all the data available for this study on 2017-08-29.
Illumina HiSeq 2000 125

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