Two of the hottest fields in the genomic diagnostics market are NIPT (Noninvasive Prenatal Testing) and liquid biopsy. Both share the same mechanim by testing the circulating free DNA in the bloodstream, even though NIPT applies in the pregnancy diagnostics while Liquid Biopsy is for cancer.
Recent genome sequencing studies in two different mammals have uncovered interesting differences in genomic content.
Uniting your CNV, AOH, and SV events in a Single Software System - learn more about it from highlights of our Q&A section!
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.