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BioDiscovery Releases Nexus Copy Number Version 7.5

Published: Friday, February 14, 2014
Last Updated: Friday, February 14, 2014
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New NGS module for DNA copy number and sequence variation analysis and visualization.

BioDiscovery, Inc. has announced the release of version 7.5 of Nexus Copy Number software, the leading platform for analysis of sequence and structural variation from microarray and NGS platforms.

Version 7.5 introduces a new NGS module for analysis of sequence variants from array or NGS platforms, and detection of copy number from sequencing data. The software expands support for the Affymetrix platform with support for the OncoScan™ FFPE Assay Kit and Affymetrix Axiom® Human Genotyping array.

Notable features for the case review workflow include new filters that quickly cut variations down to potential pathogenic ones, including a trio analysis filter to removes parental calls from the proband, and the ability to display previous samples containing a variant under review.

For cancer applications, improvements include ASCAT 2.1, which does not require a matched normal, and the ability to detect CNVs from whole-genome and whole-exome sequencing.

“We have seen a significant increase in interest in obtaining copy number from sequencing data and we have introduced some methods for this in Nexus Copy Number 7.5,” said Dr. Soheil Shams, CEO, BioDiscovery, Inc. “We have also implemented a version of ASCAT 2.1 for complex tumor samples without paired normal, added many features for cytogenetics users to speed case review, introduced features for trio analysis, and have added a host of small usability enhancements throughout. BioDiscovery is committed to making data analysis easier for the end-user and will continue to expand the product with solutions that grow with changing technology.”

Nexus Copy Number’s unique feature of integrated analysis allows identification of sequence variants overlapping copy number aberrations or homozygous regions and with version 7.5 this integration is taken a step further with the ability to store and query sequence variants in the Nexus DB genomic data repository.

Users can search the extensive Nexus DB library (containing data from sources such as TCGA, GEO, AGRE, and ISCA) for sequence variants, loss of heterozygosity , and copy number changes to find previous reported cases or similar aberration profiles among other diseases.

BioDiscovery Nexus Copy Number can integrate and process together, in a single project, data from commercial array platforms such as Agilent, Affymetrix, Illumina, Roche NimbleGen, custom arrays and data from Next-Gen platforms such as Ion Torrent, Illumina MiSeq, HiSeq, Complete Genomics, and others.

The software is applicable to many types of studies from focused projects of a cytogeneticist to large scale cancer or GWAS studies. BioDiscovery is attuned to such different needs and offers the product in a flexible and modular system allowing users to create configurations that are suited to their needs.

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