Topic: Aoh

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.

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.

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.