Topic: Copy Number

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.

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.

Does reanalysis improve diagnostic yield?

A recent paper on the project shared results from a reanalysis in 2017 of the initial 1133 children using new knowledge and findings that have accumulated since the initial analysis. The pace at which improvements in genomic data technologies, analysis, and knowledge are moving, the group hypothesized that it is likely that diagnostic yield would increase via the reanalysis. They sought to determine how much of an improvement can be made over time.

Nexus Copy Number – Casting a Wide Net

Nexus Copy Number has been used to work on a variety of organisms, including canines, monkeys, plants, humans, and more. View these highlighted publications.

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.

Using CoNIFER to Detect Copy Number Variations from Exome Sequencing Data

CoNIFER can be used to discover CNVs that might be missed by standard practices. Look at our considerations when evaluating the CoNIFER algorithm.

Estimating Copy Number From Log Ratios

Take a look at some common questions that customers have about using Nexus, and receive some advice on calculating the actual copy number of samples in Nexus.

From Raw Data to Copy Number Calls – Data processing workflow in Nexus Copy Number

Take a look at how Nexus Copy Number handles the different “Raw Data” and the three steps to analyzing the data.

Estimation of Aberrant Cell Percentage in Tumor Normal Cell Mixture

Cancer samples usually contain a mixture of tumor and normal cells. Take a look at this formula for calculating a one-copy loss event.