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.
Using a combination of genomic sequencing technologies and bioinformatic tools, PerkinElmer Genomics is paving the way to replace traditional microarray analyses for constitutional genomics with NGS. Dr. Alka Chaubey, PerkinElmer Genomics, presented development and validation of the new CNGnome™ Test and comparison to traditional CMA. Dr. Chaubey also discusses how NxClinical was selected for use with their new assay and shows how the software was invaluable in the interpretation process.
A recent Science article, "Phenotype risk scores identify patients with unrecognized Mendelian disease patterns", from Vanderbilt University Medical Center leverages the phenotypic patterns of Mendelian diseases to detect rare-variant associations and finds that most of the individuals with statistically significant variants were undiagnosed with the target Mendelian disease.
Great to see so many customer posters featuring Nexus Copy Number at AACR 2017 and even some using the newly released version 9.0 for deriving CNVs from low-pass WGS and cancer panel data.
Take a look at how Nexus Copy Number handles the different “Raw Data” and the three steps to analyzing the data.
By adding CNV analysis to your GWAS study, you can greatly expand the power of your studies. Learn more about CNV analysis for Affymetrix Axiom genotyping.
WES and SNP arrays detect concordant gene-level alterations. Learn how CNV detection from whole-exome sequencing (WES) compares with SNP microarray.
Learn more about CNV analysis by reading this review of the challenges with detecting copy number variations with next-generation sequencing.
Learn why Nexus Copy Number is the exclusive software solution for the analysis of OncoScan™ data due to its advanced algorithm and ease of use.