Increasing the diagnostic yield of exome sequencing by copy number variant analysis.
As whole exome sequencing (WES) becomes more widely used in the clinical realm, a wealth of unanalyzed information will be routinely generated. Using WES read depth data to predict copy number variation (CNV) could extend the diagnostic utility of this previously underutilized data by providing clin...
Main Authors: | , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2018-01-01
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Series: | PLoS ONE |
Online Access: | https://doi.org/10.1371/journal.pone.0209185 |