Resource Centre
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Sex differences in MAGEL2 gene promoter methylation in high functioning autism trends from a pilot study using nanopore Cas9 targeted sequencing
- Cas enrichment
- Human genomics
- Methylation
- Targeted
- MinION
November 29 2024
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Oxford Nanopore long-read sequencing with CRISPR/Cas9-mediated target selection for accurate characterisation of copy number variants in the LDLR gene
- Cas enrichment
- Human genomics
- MinION
- MinKNOW
- Structural variation
March 4 2025
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Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases
- Cas enrichment
- Human genomics
- Targeted
- MinION
- MinKNOW
November 28 2024
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Enhanced detection and genotyping of disease-associated tandem repeats using HMMSTR and targeted long-read sequencing
- Cas enrichment
- Human genomics
- Neuroscience
- Targeted
- MinION
- Scalable
December 16 2024