Topic: Cytogenetics
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.
Patent Filed using Nexus Copy Number – for Canine Cancer Diagnosis
Dr. Breen of North Carolina State University has been a long time user of our Nexus Copy Number software and we were pleased to learn of his application of his latest patent: a new, non-invasive method of diagnosing bladder cancer in dogs.
