Topic: Cytogenetics

Bionano Genomics Acquiring BioDiscovery – The Perfect Alignment of the Stars

Enlightenedbio interviews Dr. Soheil Shams, President, Founder, and CSO of BioDiscovery and now Chief Informatics Officer (CIO) at Bionano Genomics, on the recent acquisition of BioDiscovery by Bionano.

Hello, ACMG scoreboard. Goodbye, external calculator tools.

The most recent version of NxClinical, the leading CNV analysis software for clinical cytogenetics and molecular labs, now includes an integrated ACMG guidelines scoreboard feature. This feature automatically calculates the score for many of the evidence categories described by the ACMG standards.

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.

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.

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).

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.