Article

One in seven pathogenic variants can be challenging to detect by NGS: An analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

2020-07-25

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> To evaluate the impact of technically challenging variants on the implementation, validation, and diagnostic yield of commonly used clinical genetic tests. Such variants include large indels, small CNVs, complex alterations, and variants in low-complexity or segmentally duplicated regions. <h4>Methods</h4> An interlaboratory pilot study used novel synthetic specimens to assess de...

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Literature Corpus work: 9433e2a5-3a20-5088-942e-86b31bdc2098
DOI: 10.1101/2020.07.22.20159434

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