Topic: Clinical

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.

Did you catch the PerkinElmer Genomics' webinar on their new CNGnome test using NxClinical for analysis & interpretation?

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.

Southern California Regional Cytogenetics & Molecular Genetics Meeting Proves to be Big Success

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.