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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.
Technical spotlight: Detecting small- and medium-length copy number variants by whole-genome sequencing
Performance of different eccDNA detection tools using Illumina short
Rami Mehio on LinkedIn: #dragen #illumina #sequencing #ngs
Detection of DNA copy number alterations in cancer by array comparative genomic hybridization
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data, Genome Medicine
Maria Martínez-Fresno Moreno on LinkedIn: #ichg2023 #wgs #genome
Cancers, Free Full-Text
Ethical issues raised by new genomic technologies: the case study of newborn genome screening, Cambridge Prisms: Precision Medicine
Samuel Strom, PhD FACMG on LinkedIn: whoa. I mean I knew thing
Samuel Strom, PhD FACMG on LinkedIn: #genetics #acmg2023
Rami Mehio on LinkedIn: #bioinformatics #illumina #dragen
Cancers, Free Full-Text
Maria Martínez-Fresno Moreno on LinkedIn: This is how diagnostic
Rami Mehio on LinkedIn: #dragen #ml