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.
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data, Genome Medicine
Continuing to crack the mitochondrial genetic code - SOPHiA GENETICS
Rami Mehio on LinkedIn: #emedgene #dragen #illumina
Detecting copy number variation in next generation sequencing data from diagnostic gene panels, BMC Medical Genomics
Copy Number Variation (CNV) Analysis
Samuel Strom, PhD FACMG on LinkedIn: whoa. I mean I knew thing
High-throughput sequencing technologies in the detection of livestock pathogens, diagnosis, and zoonotic surveillance - Computational and Structural Biotechnology Journal
Amplicon Sequencing
Rami Mehio on LinkedIn: Using whole-genome sequencing to evaluate
Rami Mehio on LinkedIn: Illumina Acquires Edico Genome to
Frontiers SECNVs: A Simulator of Copy Number Variants and Whole-Exome Sequences From Reference Genomes
GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data
Copy Number Variant Detection Using Next-Generation Sequencing - ScienceDirect
Genomics Articles Recent genomics discoveries by Illumina scientists
Copy Number Variation (CNV) Analysis
