Topic: Cnv
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.
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.
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).
Copy Number and Loss of Heterozygosity Analysis in Tumors
The 2019 Tumor Profiling: Methods and Protocols book is out and we are particularly excited about the Whole-Genome Single Nucleotide Polymorphism Microarray for Copy Number and Loss of Heterozygosity Analysis chapter! Read more.
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.
