Technical spotlight: Detecting small- and medium-length copy number variants by whole-genome sequencing
By A Mystery Man Writer
Description
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.
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Genomics Research Illumina research & innovation
Technical spotlight: Detecting small- and medium-length copy number variants by whole-genome sequencing
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Ethical issues raised by new genomic technologies: the case study of newborn genome screening, Cambridge Prisms: Precision Medicine
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Maria Martínez-Fresno Moreno on LinkedIn: National Rapid Genome Sequencing in Neonatal Intensive Care
Rosy Volpi on LinkedIn: Meet Illumina at ESHG 2023
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James Han on LinkedIn: Technical spotlight: Detecting small- and
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