Topic: Nxclinical
Publication notes superiority of NxClinical software for CNV detection from low pass sequencing
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.
BioDiscovery launches NxClinical 5.0, for integrated review of CNVs, AOH, and Sequence Variants
NxClinical 5.0 is a unique software solution for integrated analysis of copy number, sequence variants, and allelic changes obtained from multiple technologies. NxClinical 5.0 addresses the changing dynamics in the clinical genomics field where multiple technologies and modalities are merging together enabling increased clinical knowledge and greater efficiency.
Aberrant Cell Fraction Estimation in NxClinical 5.0
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).
Copy Number and Loss of Heterozygosity Analysis in Tumors
The 2019 Tumor Profiling: Methods and Protocols book is out and we are particularly excited about the Whole-Genome Single Nucleotide Polymorphism Microarray for Copy Number and Loss of Heterozygosity Analysis chapter! Read more.
Dazed by the same routine? Discover a Novel Integrated Approach to Clinical Genomic Analysis
NxClinical provides a novel, integrated approach to clinical genome analysis and interpretation.
NxClinical 5.0 webinar - what to expect
We are ringing in the new year with a webinar on what’s new in NxClinical. Sign-up to save your spot!
The 2019 Southern California Regional Molecular and Cytogenetics Meeting
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.
Clinical Genome Data Analysis Workshop in China
To educate the community and encourage sharing of experiences and knowledge within the genetic testing labs, Be Creative recently hosted a workshop on clinical data analysis and interpretation using NxClinical.
OMIM data in NxClinical
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.
