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.

Single-cell copy number variant detection reveals the dynamics and diversity of adaptation

Rami Mehio on LinkedIn: GitHub - Illumina/DRAGMAP: DRAGEN open

Rami Mehio on LinkedIn: Overcoming high homology to detect

Copy Number Variant Detection Using Next-Generation Sequencing - ScienceDirect

Genomics Articles Recent genomics discoveries by Illumina scientists

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

Single-cell copy number variant detection reveals the dynamics and diversity of adaptation

Samuel Strom, PhD FACMG on LinkedIn: The NYCKidSeq randomized

Maria Martínez-Fresno Moreno on LinkedIn: #ichg2023 #wgs #genome

Genomics Articles Recent genomics discoveries by Illumina scientists