Detecting structural variations in the human genome using next generation sequencing

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Detecting structural variations in the human genome using next generation sequencing.

Structural variations are widespread in the human genome and can serve as genetic markers in clinical and evolutionary studies. With the advances in the next-generation sequencing technology, recent methods allow for identification of structural variations with unprecedented resolution and accuracy. They also provide opportunities to discover variants that could not be detected on conventional ...

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ژورنال

عنوان ژورنال: Briefings in Functional Genomics

سال: 2010

ISSN: 2041-2649,2041-2657

DOI: 10.1093/bfgp/elq025