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.

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

Illumina: The Measurement Monopoly - by Elliot Hershberg

Technical spotlight: Detecting small- and medium-length copy

Rami Mehio on LinkedIn: Using DRAGEN for Gaucher and Parkinson

Maria Martínez-Fresno Moreno on LinkedIn: IV Congreso

COVID-19

Samuel Strom, PhD FACMG on LinkedIn: The NYCKidSeq randomized

Rami Mehio على LinkedIn: Using whole-genome sequencing to evaluate

Frontiers SECNVs: A Simulator of Copy Number Variants and Whole-Exome Sequences From Reference Genomes

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