BioDiscovery Resources

Educational Videos

Catch up on popular industry topics with short videos that you can’t find anywhere else!

ASHG 2018 Customer Presentation - Integrated analysis and clinical interpretation of CNV, LOH, and Sequence Variants of FFPE cancer samples profiled on a solid tumor NGS panel.

Learn about the integrated analysis and clinical interpretation of CNV, LOH, and Sequence Variants of FFPE cancer samples profiled on a solid tumor NGS panel.

ASHG 2018 Customer Presentation - Implementation of copy number variant detection from existing exome and genome samples.

Learn about the Implementation of copy number variant detection from existing exome and genome samples.

ASHG 2018 Customer Presentation - Exome reanalysis and integrated SNV and AOH detection in a patient with a bone marrow failure syndrome.

Learn about exome reanalysis and integrated SNV and AOH detection in a patient with a bone marrow failure syndrome.

ASCAT Algorithm

Learn what the ASCAT algorithm does and how it accounts for complications of aneuploidy, tumor heterogeneity, and contamination from normal cells in tumor sample analysis.

Frequency Significance Testing Using GISTIC

GISTIC helps to identify regions that are significantly gained or lost across a set of samples, giving a greater weight to high-amplitude events which are less likely to represent random aberrations.

Gene Enrichment Analysis

Enrichment analysis identifies GO terms and the genes associated with these that are significantly over-represented in the aberrant regions. Learn more.

Frequency Significance Testing Using STAC

The method applies the frequency of aberration at a location across the entire sample set and a footprint as the interval lengths of overlapping aberrations.

Identification of Common Aberrations

Learn what aberrations are common, and two popular approaches (GISTIC and STAC) used to determine which are statistically significant.

Mosaicism and its Effect on aCGH Measurements

Gain a better understanding of what mosaicism is, how to identify it, and how it affects the calling algorithms.

Data QC

Learn about the different quality measures, how the quality score is calculated, and how to determine what is a good quality score.

Systematic Bias Correction (GC Wave Correction)

Gain a better understanding of how to identify systematic biases in your data. Then, learn some different correction approaches, and when and how to apply them.

Basic Copy Number Analysis Terminology

Learn some basic terms used when analyzing chromosomal copy number aberrations and allelic imbalances.