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.

GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data

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

Robust foreground detection in somatic copy number data

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