NxClinical provides a novel, integrated approach to clinical genome analysis and interpretation.
At the latest SoCal region Cytogenetics and Molecular Genetics meeting, there was much discussion over the future direction of genomic variant detection and classification in oncology.
Dr. Soheil Shams was in invited to speak in Bejing, China last week at BeCreative's 5th Annual New Technologies in Cytogenetics & Clinical Application Meeting.
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.
We recently attended the HGSA conference in Sydney a couple weeks ago and had the opportunity to experience some of the excitement around genomics in Australia.
Using a combination of genomic sequencing technologies and bioinformatic tools, PerkinElmer Genomics is paving the way to replace traditional microarray analyses for constitutional genomics with NGS. Dr. Alka Chaubey, PerkinElmer Genomics, presented development and validation of the new CNGnome™ Test and comparison to traditional CMA. Dr. Chaubey also discusses how NxClinical was selected for use with their new assay and shows how the software was invaluable in the interpretation process.