BioDiscovery Blog
Whole-Genome CNV Analysis: A Brief Guide
Whole-genome data has broad utility as it can detect SNVs, insertions/deletions, copy number changes, and both large and small structural variants. Thanks to recent technological innovations, the latest genome sequencers can perform whole-genome sequencing more efficiently than ever.
Next-Generation Sequencing CNV Detection & Analysis: A Quick Guide
At Bionano, we equip labs with the single-source software solution they need to overcome this challenge. NxClinical software is, what we believe, to be the most comprehensive and up-to-date solution for cytogenetics and molecular genetics in one system for analyzing and interpreting all genomic variants, including CNVs, from microarray and NGS data.
Automating Genomic Scar Analysis For HRD
Current tools for assessing HRD status are limited to targeted detection of point mutations in HR genes predicted to be causative of HRD or cannot detect abnormalities across the entire genome. NxClinical software can help resolve this limitation by providing a genome-wide scarring approach coupled with integrated SNV analysis of HR genes that may reveal critical insights to tumor biology.
A first-of-its-kind clinical research genetics knowledgebase: Accelerate your case review with NxClinical
The newest version of NxClinical fills a critical role—it solves the two conventional software problems identified within this blog—with its integrated Knowledgebase (KB) module. This first-of-its-kind database feature can dramatically simplify a lab’s interpretation, reporting process, and standardization while enhancing the consistency of each case report.
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.
