Over a dozen of Southern California's finest Cytogenesis and Molecular genesis came together to discuss latest developments, share experiences and information, and help overcome challenges. This proved to be a breeding ground for new ideas, collaborations, and learning.
A recent paper on the project shared results from a reanalysis in 2017 of the initial 1133 children using new knowledge and findings that have accumulated since the initial analysis. The pace at which improvements in genomic data technologies, analysis, and knowledge are moving, the group hypothesized that it is likely that diagnostic yield would increase via the reanalysis. They sought to determine how much of an improvement can be made over time.
Post ExcerptThis week many new tracks were added to the NxClinical track auto-update system. Below is a detailed description of what was added. CIViC – CIViC is an open access, open source, community-driven web resource for Clinical Interpretation of Variants in Cancer.
We had a great workshop at ASHG a few months ago. If you were not at the meeting or missed our workshop, you can still view our guest presenters' talks. We launched NxClinical 4.0 at the conference and prior to that we had some customers who got the chance to use it via our Early Access Program. A few of those users share their experiences in using NxClinical 4.0 specifically in the area of combining analysis and interpretation of CNV, SNV, and allelic events within a single software framework where copy number is derived from NGS data.
Liquid Biopsy, the detection of circulating tumor DNA in peripheral blood, has been a hot topic in cancer and will keep its momentum in the foreseeable future.
Happy 2018! 2017 saw a renewed interest in copy number analysis particularly from NGS data and I think it's going to be a key topic in 2018. The ability to obtain copy number from the same assay as that used for SNVs is an important topic among genetics labs. Clinicians are now starting to realize the major benefits in consolidating tests to a single NGS assay analyzed on a single software system.
A while back we discussed what systematic correction is and how the files are created to apply this to your data. As a follow up, today we'll explain how the content of systematic correction files are used.
We showed the benefits of an integrated review of CNV, AOH, and SNV using our NxClinical software which handles both array and NGS data in a single system.
BioDiscovery inked a deal with Be Creative Lab (Beijing) Co. Ltd. where Be Creative will be the sole reseller and distributor of BioDiscovery products in China. Be Creative is a clinical genetic testing center in Beijing, China, providing diagnostic support for a number of hospitals. Be Creative debuted NxClinical 4.0 at the Clinical Applications Conference which focused on comprehensive application of SNP-Array, NGS and other technology platforms to enhance clinical diagnostics. The conference, hosted by Be Creative, brought together 200 clinical genetics experts.