A clinically validated whole genome pipeline for structural variant detection and analysis

A clinically validated whole genome pipeline for structural variant detection and analysis

Abstract Background With the continuing decrease in cost of whole genome sequencing (WGS), we have already approached the point of inflection where WGS testing has become economically feasible, facilitating broader access to the benefits that are helping to define WGS as the new diagnostic standard....

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Bibliographic Details
Main Authors: Nir Neerman, Gregory Faust, Naomi Meeks, Shira Modai, Limor Kalfon, Tzipora Falik-Zaccai, Alexander Kaplun
Format: Article
Language:English
Published: BMC 2019-07-01
Series:BMC Genomics
Subjects:
Whole genome sequencing
Structural variants
Clinical validation
Pipeline
Diagnostic console
WGS
Online Access:http://link.springer.com/article/10.1186/s12864-019-5866-z

Internet

http://link.springer.com/article/10.1186/s12864-019-5866-z

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