SoftGenetics - Software PowerTools for Genetic Analysis
 
       

 

Copy Number Variation (CNV) Analysis

NextGENe software provides three options for CNV for the various needs of molecular genetics laboratories:

  1. The NextGENe CNV tool. Validated for Clinical applications is used to compare a single sample with a single control or group of controls. The CNV tool can be used for targeted panels and Whole Exome Sequencing (WES). Because it relies on normalized coverage values, adequate base coverage is important. Both the sample and control (control group) should be run with the same chemistry and similar run conditions.
  2. NextGENe software’s Batch CNV tool can be used to compare several samples to one another, no controls. It has been shown to be concordant with a Sanger/MLPA® combo approach. When used as a screening function, the Batch CNV Tool in laboratories performing MLPA has been shown to significantly reduce costs, while greatly enhancing analysis efficiency.

    The method is ideal for CNV panels such as NimbleGen Seq Cap targeted panels and other chemistries with low noise, (minimal effect on sensitivity/specificity – WES may be too noisy). The tool can simultaneously analyze up to 228 total data points, for example 24 samples with each targeting 11 Mbps.
  3. NextGENe software’s Sensitive Aneuploidy Detection (SAD) tool is designed for chromosome copy number detection in Whole Genome Sequencing (WGS), for cell free DNA (cfDNA) applications such as non-invasive prenatal testing (NIPT). The tool is streamlined for very simple operation and the normalization process allows for detection of aneuploidies even with a high background of non-aneuploid data. Because of the level of normalization required, this tool uses a modeling control group of at least 30 samples generated by the same chemistry.

 

For further information please review or download the following Application Notes or Poster:
NextGENe CNV Detection- Dispersion and HMM
Mutation Detection and CNV Analysis for Illumina Sequencing data from HaloPlex Target Enrichment Panels using NextGENe Software for Clinical Research
Copy Number Variation Detection Poster presented at 2013 ABRF conference

 

To view use of NextGENe for CNV analyses please view the following webinars:
CNV Algorithm: Dispersion and HMM
Mutation Detection and CNV Analysis for Illumina Sequencing Data from HaloPlex™ Target Enrichment Panels
CNV Detection using Ion AmpliSeq™ panels or the HaloPlex™ Target Enrichment System Targeted Sequencing Data with NextGENe® Software

Copy Number Variation (CNV) Detection using Targeted Sequencing Data with NextGENe® Software v2.3.1
Mutation Detection and CNV Analysis for Illumina Sequencing data from HaloPlex Target Enrichment Panels using NextGENe Software for Clinical Research

SoftGenetics - Software PowerTools for Genetic Analysis

Software

 

 

 

 

 

 

 


 

 

 

SoftGenetics - Software PowerTools for Genetic Analysis

 

 

 

 

SoftGenetics - Software PowerTools for Genetic Analysis
HOME | CONTACT US

Please feel free to contact us, representatives are here to help.

 

 

© 2016 SoftGenetics, LLC. All rights reserved


100 Oakwood Avenue
Suite 350
State College, PA 16803
USA


Phone: 814-237-9340 or 888-791-1270
Email: info@softgenetics.com

 

Web design by Lovett Creations