BioDiscovery Blog

Hello, ACMG scoreboard. Goodbye, external calculator tools.

From SNP arrays and NGS data with corresponding SNP data, NxClinical enables laboratories to detect the presence of both isoUPD and heteroUPD when a parental sample is available.

Enhanced detection of UPD: there is more than the eye can see

From SNP arrays and NGS data with corresponding SNP data, NxClinical enables laboratories to detect the presence of both isoUPD and heteroUPD when a parental sample is available.

The DGV score and so much more...

For almost two decades the Database of Genomic Variants (DGV) has provided researchers and clinicians open access to common copy number variations, from diverse genomic populations for the purpose of identifying common polymorphisms in these populations...

Maximize Clinical Research Data With BioDiscovery's Genomics AI-Enabled Software Solution

For 25 years, BioDiscovery, Inc. has been dedicated to developing state-of-the-art software products for life science research and clinical applications. In this interview, BioDiscovery Founder, President & CSO Soheil Shams portrays the success story of a company that is deeply entrenched in the history and rapid acceleration of genomics.

Lucky No. 14: ACMG adds new genes for reporting secondary findings

The American College of Medical Genetics and Genomics Secondary Findings Working Group has recently updated its recommendations.

The role of a Customer Success Manager in Biotech: customer focus for positive outcomes

With a continued focus on customers, BioDiscovery moves from a sales and support departmental structure to a holistic team filled with Customer Success Managers.

Introducing NxClinical 6.0 — 5 key updates and improvements

The long-awaited NxClinical update is here! NxClinical 6.0 is packed with over 500 features and improvements - too many to talk about here but this blog features some of the highlights.

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.

Promising results for a new non-invasive prenatal test that uses single circulating trophoblasts

A recent study from Arthur Beaudet’s lab at Baylor College of Medicine published in the American Journal of Human Genetics (AJHG) looks at the ability to detect fetal aneuploidies and copy number variants (CNVs) at 1Mb resolution from single circulating trophoblast (SCT) cells in maternal blood.

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).