Topic: Sequence Variants

Next-Generation Sequencing CNV Detection & Analysis: A Quick Guide

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.

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.

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.