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Pushing the boundaries of rare disease research
- Clinical research
- Human genomics
- Whole genome
- Targeted
- PromethION
- MinION
- Bioinformatics
- Assembly
- Structural variation
- SNVs
- Phasing
- Amplicons
- Variant calling
- Splice variation
- Transcriptome
- cDNA
- RNA
June 6 2023