Journal article

CNspector: a web-based tool for visualisation and clinical diagnosis of copy number variation from next generation sequencing

John F Markham, Satwica Yerneni, Georgina L Ryland, Huei San Leong, Andrew Fellowes, Ella R Thompson, Wasanthi De Silva, Amit Kumar, Richard Lupat, Jason Li, Jason Ellul, Stephen Fox, Michael Dickinson, Anthony T Papenfuss, Piers Blombery

Scientific Reports | Nature Publishing Group | Published : 2019

Abstract

Next Generation Sequencing is now routinely used in the practice of diagnostic pathology to detect clinically relevant somatic and germline sequence variations in patient samples. However, clinical assessment of copy number variations (CNVs) and large-scale structural variations (SVs) is still challenging. While tools exist to estimate both, their results are typically presented separately in tables or static plots which can be difficult to read and are unable to show the context needed for clinical interpretation and reporting. We have addressed this problem with CNspector, a multi-scale interactive browser that shows CNVs in the context of other relevant genomic features to enable fast and..

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Grants

Funding Acknowledgements

We gratefully acknowledge funding support from The Snowdome Foundation (https://www.snowdome.org.au/). This research was supported by 'The Snowdome Foundation (https://www.snowdome.org.au/).