BioDiscovery
Share
BioDiscovery develops advanced software solutions for the analysis of data from high-throughput microarray and next-generation sequencing (NGS) technologies and provides a full line of modular software packages built for power, versatility, and efficiency
01/11/2022
In our latest blog update, we compare the similarities and differences in CNV detection between WES and SNP microarray methods. Read now to learn more about these technologies and the standards being utilized for CNV calling in genomics labs across the world.
Comparison of CNV Detection from WES vs. SNP Microarray https://hubs.ly/Q011XSZl0
"Overall, the NxClinical integrated ACMG scoreboard allows for traceability. It is efficient, supportive, and dynamic. Initially, we envisaged only classifying the reportable copy number variations (CNVs) using the technical standard but the American College of Medical Genetics (ACMG) scoreboard has made it achievable to curate every CNV." - Amber Boys, Sr. Medical Scientist, VCGS
Learn more about how your lab can effectively and efficiently curate CNVs using the new ACMG scoreboard in NxClinical during this 30-minute webinar.
Rapid implementation of the latest technical standards with the NxClinical integrated ACMG scoreboard https://hubs.ly/Q0108Q3s0
11/19/2021
BAM! Did you check your reads? If you did, you would have found a nesting pathogenic homozygous deletion!!!
Learn more about how WGS has helped Fen Guo and her team at PerkinElmer Applied Genomics to solve this case and 3 more on rare disorders. Get some insights on how clarity, coverage, and resolution are achieved in detecting copy number variants by NGS with NxClinical.
Copy Number Variant Detection by NGS: Coverage, Uniformity & Resolution https://hubs.ly/H0_xmVK0
Click here to claim your Sponsored Listing.
Category
Contact the business
Telephone
Website
Address
715 North Douglas Street
El Segundo, CA
90245
Opening Hours
| Monday | 9am - 5pm |
| Tuesday | 9am - 5pm |
| Wednesday | 9am - 5pm |
| Thursday | 9am - 5pm |
| Friday | 9am - 5pm |
