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Educational Videos

Educational Videos

Educational Videos

Educational Videos

Educational Videos

Educational Videos

Educational Videos

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Educational Videos

Case Studies

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Case Studies

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White Papers

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Webinars

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

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

Downstream Research Analysis of Copy Number from NGS in Cancer Samples

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

A New Understanding of the Genetic Basis of Pregnancy Loss: What Large-scale Cytogenomic Analysis is Revealing

A new method to estimate copy number from NGS for both shallow/targeted sequencing and normal coverage WGS/WES data

Gene Prioritization in Regions of Homozygosity

Get copy number results from WES, WGS, and targeted panel NGS with Nexus Copy Number

An Automated Approach for Enforcement of ACMG Standards and Guidelines for CNV Analysis

Detecting CNVs from Whole Exome Sequencing Data Using Nexus Copy Number

Evolution Of Software Tools For CNV Interpretation

Comparative cytogenomics – a translational approach to accelerate cancer gene discovery

Whole Genome MAQ in Nexus Copy Number software – A fast, simple, and integrated tool for CNV validation

Investigation of the TCGA LAML dataset using Nexus Copy Number

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

BioDiscovery’s Nexus Copy Number software for CNV analysis from Affymetrix Axiom arrays

Copy Number Analysis and Its Application to Genomic Research_ aCGH Principles and Calling Algorithms

Integrated analysis of sequence variations and copy number in TCGA data with the new Nexus Copy Number

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 - 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.

ASCAT Algorithm

ASCAT Algorithm

Frequency Significance Testing Using GISTIC

Gene Enrichment Analysis

Frequency Significance Testing Using STAC

Identification of Common Aberrations

Mosaicism and its Effect on aCGH Measurements

Data QC

Systematic Bias Correction (GC Wave Correction)

Basic Copy Number Analysis Terminology

Basics of CNV Calling Algorithms HMM, CBS, Rank Segmentation

Basic Principles of Array CGH

Dealing with Aneuploidy

Copy Number and Allelic Event Measurements from SNP Arrays

Basics of CNV Calling Algorithms FASST2 Segmentation

Case Studies

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

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

NxClinical Software Significantly Increases Efficiency at Ambry Genetics

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

BioDiscovery Nexus and Professional Services Help Researcher with Integrative Genomic Data Analysis

White Papers

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

ACMG Standards and Guidelines Implementation in NxClinical

Analyzing NGS Data For Copy Number Events

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