Next generation sequencing in endocrine practice
نویسندگان
چکیده
منابع مشابه
Next generation sequencing--implications for clinical practice.
BACKGROUND Genetic testing in inherited disease has traditionally relied upon recognition of the presenting clinical syndrome and targeted analysis of genes known to be linked to that syndrome. Consequently, many patients with genetic syndromes remain without a specific diagnosis. AREAS OF AGREEMENT New 'next-generation' sequencing (NGS) techniques permit simultaneous sequencing of enormous a...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism
سال: 2015
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2015.05.002