Crossmark

ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data

Crossref DOI link: https://doi.org/10.1186/s13073-021-00841-x

Published Online: 2021-02-25

Published Print: 2021-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Minoche, Andre E. http://orcid.org/0000-0003-2757-4146
Lundie, Ben

Peters, Greg B.

Ohnesorg, Thomas

Pinese, Mark

Thomas, David M.

Zankl, Andreas

Roscioli, Tony

Schonrock, Nicole

Kummerfeld, Sarah

Burnett, Leslie

Dinger, Marcel E.

Cowley, Mark J.
Funding

Funding for this research was provided by:

Kinghorn Foundation

Cancer Institute NSW

NSW Health
License Information

Text and Data Mining valid from 2021-02-25

Version of Record valid from 2021-02-25
More Information

Article History

Received: 30 June 2020

Accepted: 2 February 2021

First Online: 25 February 2021

Ethics approval and consent to participate

: This research was approved by the ethics committee from the Royal Prince Alfred Hospital, Sydney, Australia (HREC ref. no. 13/RPAH/363). <i>ClinSV</i> was developed and validated within our own ISO15189 clinically accredited laboratory (NATA/RCPA ref. no. 19887) using deidentified diagnostic specimens from several diagnostic laboratories, in accordance with the National Pathology Accreditation Advisory Council (NPAAC) laboratory accreditation framework. Patients referred to the South Eastern Area Laboratory, Sydney and Children’s Hospital of Westmead, Sydney diagnostic laboratories provided informed consent for copy number analysis of their DNA, while patients referred directly to our accredited laboratory provided informed written consent for analysis of their DNA by WGS including CNV analysis for the purpose of obtaining a molecular diagnosis. This research conforms to the principles of the Helsinki Declaration.

: Not applicable.

: The authors declare that they have no competing interests.

Document is current

Any future updates will be listed below