OMIM (Online Mendelian Inheritance in Man) is a comprehensive database consisting of human genes and genetic phenotypes associated with Mendelian disorders. The database is used by genetic labs to assist in interpretation. It is maintained by Johns Hopkins University and is available freely via the online GUI for personal, educational, or research use but other uses, usage by certain types of organizations, as well as downloading or incorporating with products does carry licensing fees.
At the American Society of Clinical Oncology (ASCO) meeting last month, Dr. Nathan Pennell, Director of the Lung Cancer Medical Oncology Program at the Cleveland Clinic, and his colleagues presented cost analysis in a model with different types of genetics testing in metastatic non-small cell lung cancer (mNSCLC). The team showed that upfront NGS leads to significant cost savings vs. sequential single-gene testing modalities.
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.
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.
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.
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.
Dr. Darine Villela and colleagues in Dr. Carla Rosenber's lab at the University of Sau Paulo, Brazil sought to find an integrated solution to combine two tests into one – one that was cost effective and easy to adopt in a clinical setting. They noted that there are several tools for CNV analysis from sequencing data, but the homemade tools are designed for a specific pipeline, are not user-friendly and require a high degree of bioinformatics expertise. They knew they needed a solution that would be easy to implement in a clinical lab and chose a commercial target enrichment kit and BioDiscovery’s Nexus Copy Number for analysis.