ESGI___Molecular_diagnosis_for_mitochondrial_disorders_ - EGA European Genome-Phenome Archive

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. 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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