Blog
2 results
Pushing the boundaries of rare disease research
- Splice variation
- Clinical research
- Human genomics
- Whole genome
- Targeted
- PromethION
- MinION
- Bioinformatics
- Assembly
- Structural variation
- SNVs
- Phasing
- Amplicons
- Variant calling
- Transcriptome
- cDNA
- RNA
June 6 2023
Characterising alternative splicing in the human cortex with ultra-deep nanopore sequencing
- Splice variation
- Transcriptome
- Transcriptomics
- Methylation
- Human genomics
- RNA
- cDNA
- Isoforms
- Epigenetics
- Clinical research
February 1 2024