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Technical spotlight: Detecting small- and medium-length copy number variants by whole-genome sequencing
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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.
Identification of Copy Number Alterations from Next-Generation Sequencing Data
Maria Martínez-Fresno Moreno on LinkedIn: #ichg2023 #wgs #genome
Rami Mehio on LinkedIn: GitHub - Illumina/DRAGMAP: DRAGEN open
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data, Genome Medicine
Food for thought from ASHG 2022: Affordable, comprehensive, and accessible variant analysis and interpretation with the SOPHiA DDM™ Platform - SOPHiA GENETICS
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
Genomics Research Illumina research & innovation
Rami Mehio on LinkedIn: Evaluation of an automated genome
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ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data, Genome Medicine
Copy Number Variation (CNV) Analysis
Diagnostics, 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: Real-world diagnostic
Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives, BMC Bioinformatics
