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.

Next generation sequencing technologies to explore the diversity of germplasm resources: Achievements and trends in tomato - Computational and Structural Biotechnology Journal

JCM, Free Full-Text

Copy Number Variation (CNV) Analysis

Cancers, Free Full-Text

RefCNV: Identification of Gene-Based Copy Number Variants Using Whole Exome Sequencing - Lun-Ching Chang, Biswajit Das, Chih-Jian Lih, Han Si, Corinne E. Camalier, Paul M. McGregor, Eric Polley, 2016

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Low-Pass Whole Genome Sequencing

SV detection strategies using short reads. (A) Read-depth-based method

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Variant detection - PacBio

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

Detecting Copy Number Variation via Next Generation Technology

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