Article

Amended Informative Negative Whole Exome Sequencing Results

2021-01-19

Abstract excerpt

<title>Abstract</title> <p>Background: Whole exome sequencing (WES) is widely used as a first-tier diagnostic test. The diagnostic yield for WES is estimated at approximately 50%, leaving the requesting clinician with 50% ambiguous or negative results in cases where the diseases-causing variants could not be identified. <h4>Methods:</h4> We retrospectively assessed the results of all WES tests requested from 2015...

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Literature Corpus work: 068b4f06-4596-5540-b585-754b95f1117a
DOI: 10.21203/rs.3.rs-147916/v1

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