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Blog: Resolving structural variants causing antithrombin deficiency
- Human genomics
- Clinical research
- Structural variation
- Variant calling
- Long-read
- PromethION
- DNA
- gDNA
- Whole genome
- Immunology
- Research story
September 14 2020
From portable to high-throughput benchtop devices, real-time nanopore sensing is a new generation of technology uncovering new biology across multiple sectors.