Resources

BioDiscovery provides a full library of resources and support

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Webinars

Downstream Research Analysis of Copy...

This webinar is geared towards those working on research projects and want to know what types of advanced...

Challenges and Solutions to Copy Number...

This webinar is geared towards those requiring copy number results from low coverage sequencing results...

A New Understanding of the Genetic Basis...

It is estimated that 15–20% of clinically recognized pregnancies end in miscarriage and at least 50%...

Uniting CNV, AOH, and SV events in a...

NxClinical 3.0, a truly integrated system for analysis, visualization, and interpretation of data generated...

Videos

ASCAT Algorithm

Learn what the ASCAT algorithm does and how it accounts for complications of aneuploidy, tumor heterogeneity,...

Frequency Significance Testing Using...

GISTIC helps to identify regions that are significantly gained or lost across a set of samples, giving...

Gene Enrichment Analysis

Enrichment analysis identifies GO terms and the genes associated with these that are significantly over-represented...

Frequency Significance Testing Using...

The method applies the frequency of aberration at a location across the entire sample set and a footprint...

White Papers

Comparison of the BAM (multiscale reference)...

Learn more about the various methods that have been proposed to detect CNVs from NGS data in tumor-normal...

ACMG Standards and Guidelines Implementation...

Download our new whitepaper on ACMG Standards and Guidelines Implementation in NxClinical.

Analyzing NGS Data For Copy Number Events

Next-generation sequencing (NGS) is mainly used to obtain sequence variants (SNVs). However, getting...

Addressing Aneuploidy and Nonaberrant...

Explore the use of LogR and B-allele frequency values from SNP arrays to interpret the underlying biology...

Case Studies

NxClinical Software Significantly Increases...

NxClinical’s multi-user system with automated and standardized processes and with a central database...

NxClinical Software Increases Efficiency...

NxClinical software significantly improves efficiency and turnaround time at CombiMatrix, a clinical...

BioDiscovery Nexus and Professional...

Dr. Shaveta Vinayak, a researcher and clinician, works side-by-side with the BioDiscovery Professional...