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.
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.
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.
To further enhance quality assurance, ClinGen now puts forth a list of clinical laboratories that meet minimum requirements for data sharing.
Research advances in clinical genetics recently uncovered the causative alterations for several rare diseases. Evaluate your clinical samples with ease for copy number alteration, sequence variants or both using NxClinical 3.0.
Learn how you can use NxClinical software to quickly prioritize genes that might be related to the phenotype associated with the sample.
NxClinical allows for the upload of annotation information in the form of Sample Attributes. These pre-defined fields allow for inclusion of any and all information.
NxClinical offers up-to-date annotations and link outs to several online databases, including RefSeq, ClinGen, and OMIM®, to aid interpretation.