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Educational Videos

Educational Videos

Educational Videos

Educational Videos

Educational Videos

Educational Videos

Educational Videos

Educational Videos

Educational Videos

Educational Videos

Educational Videos

Educational Videos

Educational Videos

Educational Videos

Educational Videos

Educational Videos

Educational Videos

Case Studies

Case Studies

Case Studies

Case Studies

White Papers

White Papers

White Papers

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Educational Videos

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.

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

Frequency Significance Testing Using GISTIC

Frequency Significance Testing Using STAC

Mosaicism and its Effect on aCGH Measurements

Systematic Bias Correction (GC Wave Correction)

Basics of CNV Calling Algorithms HMM, CBS, Rank Segmentation

Dealing with Aneuploidy

Basics of CNV Calling Algorithms FASST2 Segmentation

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

ASCAT Algorithm

Gene Enrichment Analysis

Identification of Common Aberrations

Data QC

Basic Copy Number Analysis Terminology

Basic Principles of Array CGH

Copy Number and Allelic Event Measurements from SNP Arrays

Webinars

Increasing the yield of exome sequencing with copy number variant analysis

Integrated analysis of SNVs, CNVs, and AOH facilitates accurate diagnosis in Mendelian disorders & pediatric cancers Recording

Combined Analysis and Interpretation of CNV, AOH, and Seq Var of FFPE Cancer Samples from a Solid Tumor NGS Panel Recording

Application of ASCAT Processing to Tumor Samples Using Nexus Copy Number

TCGA Premier – Curated CNVs for improved, efficient, and more accurate analysis

A retrospective evaluation of 211 clinical referrals for intellectual disability testing recording

Increased diagnostic accuracy for Mendelian disorders and pediatric cancers through integrated review of SNVs, CNVs and regions of homozygosity Recording

Challenges and Solutions to Copy Number Estimation from Whole Exome Sequencing in Tumors

Investigation of the TCGA LAML dataset using Nexus Copy Number

Case Studies

Trio analysis in NxClinical – Heritable retinal dystrophies in the Costa Rican population Case Study

NxClinical Software Significantly Increases Efficiency at Ambry Genetics

Clinical Conversation - Ingrid Simonic: Optimizing and Consolidating Multiple Testing Strategies to Increase Efficiency with Increasing Testing Demand

NxClinical Software Increases Efficiency in the Reporting Process at CombiMatrix | Invitae

White Papers

Comparison of the BAM (multiscale reference) algorithm to other methods for CNV detection from NGS

Addressing Aneuploidy and Nonaberrant Cell Admixture in Tumor Samples for Copy Number Variation (CNV) and Loss of Heterozygosity (LOH) Analysis

Analyzing NGS Data For Copy Number Events