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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Processing steps of the spotlight detector. The main part is the tophat
Maria Martínez-Fresno Moreno on LinkedIn: #ichg2023 #wgs #genome
Rami Mehio on LinkedIn: #dragen #fullyfeatured #maximizewgs
/blog/reorgs-demystified-insights-from-monitoring-with-a-sensor-network
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Rami Mehio on LinkedIn: #dragen #ml
Genomics Research Illumina research & innovation
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media.springer/full/springer-static/imag
Genomics Research Illumina research & innovation
Copy Number Variation (CNV) Analysis