Topic: Cnv

BioDiscovery’s NxClinical software augments PerkinElmer Genomics newborn screening and genomic testing services in labs around the world

PerkinElmer Genomics has selected BioDiscovery's NxClinical software as its choice for genomic data analysis for its services.

BioDiscovery releases Nexus Copy Number 10.0, a single solution for copy number estimation from arrays, WES, WGS, shallow, and targeted sequencing

Nexus Copy Number 10.0 is a highly robust, intuitive, and multi-platform software for both copy number calling and downstream statistical analyses. A key feature of Nexus Copy Number is its ability to derive high quality copy number calls from many flavors of NGS (whole exome, whole genome, shallow, targeted panel, and normal depth of coverage sequencing).

BioDiscovery launches NxClinical 4.1, a comprehensive system allowing interpretation of variants of any size from SNVs to large CNVs

NxClinical 4.1 is a unique software solution for integration of copy number, sequence variants, and allelic changes obtained from microarray and NGS technologies. NxClinical 4.1 allows combined analysis and interpretation of all genomic variants on a single, platform agnostic system.