Low Pass Genome Sequencing (LP-GS) for detection of CNVs as a replacement to constitutional microarray analysis. The team evaluated a number of different tools and found NxClinical to have superiority in CNV detection and classification.
NxClinical has very strong visualization tools which is important for cytogeneticists - a reviewer can easily view the allele patterns and estimate % aberrant cells. But NxClinical 5.0 makes this even easier by automatically performing this calculation on a per event basis. The software also uses a user-defined threshold to mark events as mosaic or not. The software looks at event-specific aberrant cell fraction using both the Log R value as well as BAF (where available). This approach uses platform-dependent scaling so that the correct calculation can be applied to samples from multiple platforms (e.g. ThermoFisher, Illumina, CNV from NGS).
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.
The Southern California Regional Cytogenetics & Molecular Genetics Meeting last week was a big success. Some of the biggest names in the space attended and were able to provide feedback on the unique cases that were presented, what tools seem to work best, and how they would approach the issue.
Recently we spoke with Dr. Ingrid Simonic, Deputy Director, Medical Genetics Laboratories, Cambridge University Hospitals, about the current stage of testing strategies, in particular the workflow at her hospital. She discussed how they perform many tests at the hospital and not necessarily because there are that many patients but that several tests are performed per patient.
We are excited to announce the release of NxClinical 4.1! Our unique software solution for integration of copy number, sequence variants, and allelic changes obtained from microarray and NGS technologies. NxClinical 4.1 allows combined analysis and interpretation of all genomic variants on a single, platform agnostic system.
Over a dozen of Southern California's finest Cytogenesis and Molecular genesis came together to discuss latest developments, share experiences and information, and help overcome challenges. This proved to be a breeding ground for new ideas, collaborations, and learning.