Topic: Cnv

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.

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.

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.

Nexus Copy Number 10.0 is here

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Heritable retinal dystrophies - trio analysis in NxClinical

A recent NxClinical case study features familial and trio analysis of a patient population in Costa Rica. Dr. Daynna Wolff, Director, Clinical Cytogenetics and Genomics, Medical University of South Carolina used NxClinical for integrative analysis of copy number, sequence variants, and autozygosity mapping to study 31 affected children from 23 Costa Rican families.

The Secret is out - NxClinical 4.1 is here!

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.