Article

Pilot study of EVIDENCE: High diagnostic yield and clinical utility of whole exome sequencing using an automated interpretation system for patients with suspected genetic disorders

2019-05-07

Abstract excerpt

<h4>Purpose</h4> EVIDENCE, an automated interpretation system, has been developed to facilitate the entire process of whole exome sequencing (WES) analyses. This study investigated the diagnostic yield of EVIDENCE in patients suspected genetic disorders. <h4>Methods</h4> DNA from 330 probands (age range, 0–68 years) with suspected genetic disorders were subjected to WES. Candidate variants were identified by EVI...

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Literature Corpus work: cdf0cd51-ac7d-59a1-a457-cc35fa0d1c61
DOI: 10.1101/628438

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