BioDiscovery Blog

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).

Recent publications illustrate the wide applicability of BioDiscovery’s CNV from NGS algorithm

The BAM MSR algorithm uses a set of “normal” samples to create a pooled reference to be used against the samples under analysis. Here are a few recent publications showing the algorithm’s versatility in handling different types of NGS data from panels to low-pass whole genome.

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.

Happy New Year from your BioDiscovery Family!

May 2019 bring you lots of joy, fulfillment, and love through the challenges and excitement life brings. Cheers to a wonderful year ahead!

BeCreative's 5th Annual New Technologies in Cytogenetics & Clinical Application Conference

Dr. Soheil Shams was in invited to speak in Bejing, China last week at BeCreative's 5th Annual New Technologies in Cytogenetics & Clinical Application Meeting.

ASHG 2018 Wrap-up

Back from another exciting ASHG conference. It was the highest attendance rate to date and the weather was predictably beautiful in San Diego!

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.