Cedar Sinai Medical Center in Los Angeles, CA has filed a patent for a method for prognosticating patient survival based on the ZEB1 gene. The application also describes methods for selecting therapies based on analysis of ZEB1 and several other genes.
Nexus Copy Number has helped many researchers to detect and interpret the profiles from cancer samples where contamination by normal cells is quite common.
The Exomiser tool from the Sanger Institute proposes a solution by comparing phenotypes from multiple organisms with known mutations in this paper: “Improved exome prioritization of disease genes through cross-species phenotype comparison” by Robinson et al, 2014 (Genome Res. 2014 Feb; 24(2): 340–348.
This new method, BAM (Multiscale Reference), to be included in the upcoming Nexus Copy Number 8.1, can analyze NGS data from shallow (low pass) WGS (1x or below), targeted panels, and WES/WGS with normal depth of coverage (e.g. 30x).
More and more plant and animal genomes are being sequenced and mapped - ANY organism with a mapped genome can be analyzed for copy number analysis using Nexus Copy Number.
BioDiscovery was invited as a partner to exhibit its NxClinical software with Philips at the American Molecular Pathology (AMP) Annual Conference. BioDiscovery's NxClinical has been an established software tool in clinical labs for copy number variants analysis and reporting.
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.
Dr. Breen of North Carolina State University has been a long time user of our Nexus Copy Number software and we were pleased to learn of his application of his latest patent: a new, non-invasive method of diagnosing bladder cancer in dogs.