Technical spotlight: Detecting small- and medium-length copy number variants by whole-genome sequencing

Historically, detecting different sizes of genetic variants has required using multiple different tests. By combining Illumina WGS with secondary analysis algorithms built into the DRAGEN Bio-IT Platform, researchers can achieve high-sensitivity detection of all these different variant types using a mixture of methods described here.

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Genomics Articles Recent genomics discoveries by Illumina scientists

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Detecting structural variations with precise breakpoints using low-depth WGS data from a single oxford nanopore MinION flowcell

Genomics Research Illumina research & innovation

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Whole genome nanopore long read sequencing. a Copy number analysis

Genomics Research Illumina research & innovation

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Rosy Volpi on LinkedIn: Session 2: Expanding Frontiers of Genomic

Detecting copy number variation in next generation sequencing data from diagnostic gene panels, BMC Medical Genomics

FlowCNV-seq: an almost novel metthod for single-cell copy number analysis - Enseqlopedia

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