Detection and quantification of mitochondrial DNA deletions from next-generation sequence data
نویسندگان
چکیده
منابع مشابه
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.
The molecular diagnosis of mitochondrial disorders still remains elusive in a large proportion of patients, but advances in next generation sequencing are significantly improving our chances to detect mutations even in sporadic patients. Syndromes associated with mitochondrial DNA multiple deletions are caused by different molecular defects resulting in a wide spectrum of predominantly adult-on...
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ژورنال
عنوان ژورنال: BMC Bioinformatics
سال: 2017
ISSN: 1471-2105
DOI: 10.1186/s12859-017-1821-7