Article

An interlaboratory study of complex variant detection

2017-11-23

Abstract excerpt

<h4>ABSTRACT</h4> Next-generation sequencing (NGS) is widely used and cost-effective. Depending on the specific methods, NGS can have limitations detecting certain technically challenging variant types even though they are both prevalent in patients and medically important. These types are underrepresented in validation studies, hindering the uniform assessment of test methodologies by laboratory directors and cl...

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Literature Corpus work: 557ea6bf-6bef-52d1-88c2-13344a13311f
DOI: 10.1101/218529

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