Article

Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders

2020-04-02

Abstract excerpt

<h4>Background</h4> With the reduce of cost and incomparable advantages, WGS is likely to change the way of clinical diagnosis of rare and undiagnosed diseases. However, the sensitivity and breadth of coverage of clinical WGS as a diagnostic test for genetic disorders has not been fully evaluated, especially for CNV detection. <h4>Methods</h4> All the samples underwent WGS using MGISEQ-2000. The performance of N...

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Literature Corpus work: 0469b178-2bde-5e73-8c5d-59c1589c453d
DOI: 10.1101/2020.04.01.019570

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