Study

Mitochondrial DNA sequencing in samples of Huntington’s disease patients

Study ID Alternative Stable ID Type
EGAS00001004092 Other

Study Description

Mitochondrial dysfunction is found in the brain and peripheral tissues of Huntington’s disease (HD) patients, which connects many pathological features of HD. In this project, we conducted a large-scale study of mtDNA variations with a sensitive mtDNA-targeted sequencing method called STAMP, at a median coverage of 4000-fold, in lymphoblast and blood samples of HD patients. mtDNA sequence variations and copy numbers were compared between samples from HD patients and healthy control individuals, and were assessed in relation to HD stages, and changes of HD phenotypes in longitudinal samples.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001005723
This dataset contains sequencing data from a large-scale study of mtDNA variations measured, using a sensitive mtDNA-targeted sequencing method called STAMP, in lymphoblast and blood samples of Huntington’s Disease patients.
Illumina HiSeq 2500 2602

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