Topic: Ngs

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. 

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.

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.

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.

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.

Significant Cost Savings with Single NGS Test vs. Other Strategies

At the American Society of Clinical Oncology (ASCO) meeting last month, Dr. Nathan Pennell, Director of the Lung Cancer Medical Oncology Program at the Cleveland Clinic, and his colleagues presented cost analysis in a model with different types of genetics testing in metastatic non-small cell lung cancer (mNSCLC). The team showed that upfront NGS leads to significant cost savings vs. sequential single-gene testing modalities.