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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.
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Educational Videos
ASHG 2018 Customer Presentation - Exome reanalysis and integrated SNV and AOH detection in a patient with a bone marrow failure syndrome.
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Educational Videos
Frequency Significance Testing Using GISTIC
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Educational Videos
Frequency Significance Testing Using STAC
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Educational Videos
Mosaicism and its Effect on aCGH Measurements
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Educational Videos
Systematic Bias Correction (GC Wave Correction)
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Educational Videos
Basics of CNV Calling Algorithms HMM, CBS, Rank Segmentation
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Educational Videos
Dealing with Aneuploidy
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Educational Videos
Basics of CNV Calling Algorithms FASST2 Segmentation
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Educational Videos
ASHG 2018 Customer Presentation - Implementation of copy number variant detection from existing exome and genome samples.
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Educational Videos
ASCAT Algorithm
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Educational Videos
Gene Enrichment Analysis
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Educational Videos
Identification of Common Aberrations
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Educational Videos
Data QC
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Educational Videos
Basic Copy Number Analysis Terminology
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Educational Videos
Basic Principles of Array CGH
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Educational Videos
Copy Number and Allelic Event Measurements from SNP Arrays
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Increasing the yield of exome sequencing with copy number variant analysis
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Integrated analysis of SNVs, CNVs, and AOH facilitates accurate diagnosis in Mendelian disorders & pediatric cancers Recording
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Combined Analysis and Interpretation of CNV, AOH, and Seq Var of FFPE Cancer Samples from a Solid Tumor NGS Panel Recording
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Application of ASCAT Processing to Tumor Samples Using Nexus Copy Number
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TCGA Premier – Curated CNVs for improved, efficient, and more accurate analysis
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A retrospective evaluation of 211 clinical referrals for intellectual disability testing recording
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Increased diagnostic accuracy for Mendelian disorders and pediatric cancers through integrated review of SNVs, CNVs and regions of homozygosity Recording
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Challenges and Solutions to Copy Number Estimation from Whole Exome Sequencing in Tumors
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Investigation of the TCGA LAML dataset using Nexus Copy Number
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documents

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

Case Studies
NxClinical Software Significantly Increases Efficiency at Ambry Genetics
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documents

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

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

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

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

White Papers
Analyzing NGS Data For Copy Number Events
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