Resource Centre
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Pharmacogenomic Oxford Nanopore sequencing of the Twist Alliance Long-Read PGx Panel
- SNVs
- Pharmacogenomics
- Biopharma
- Human genomics
- Clinical research
- Targeted
May 6 2025
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Workflow overview: human variant calling
- SNVs
- Human genomics
- Clinical research
- Cancer research
- PromethION 24/48
- Whole genome
April 29 2025
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Genomic hotspots in the DENV-2 serotype (E, NS4B, and NS5 genes) are associated with dengue disease severity in the endemic region of India
- SNVs
- Infectious disease
- Virus
- GridION
- Outbreak
April 29 2025
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A dual-mode targeted nanopore sequencing assay for comprehensive SMN1 and SMN2 variant analysis
- SNVs
- Human genomics
- Clinical research
- Structural variation
- Targeted
- Amplicons
March 28 2025
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Identification of GGC repeat expansions in ZFHX3 among Chilean movement disorder patients
- SNVs
- Human genomics
- Methylation
- Structural variation
- PromethION 24/48
- MinKNOW
March 19 2025
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Multisite long-read sequencing reveals the early contribution of somatic structural variations to HBV-related hepatocellular carcinoma tumorigenesis
- SNVs
- Cancer research
- Virus
- PromethION 24/48
- Structural variation
March 4 2025
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Getting started guide: single-cell transcriptomics
- SNVs
- Single cell
- RNA
- cDNA
- Fusion transcript
- Transcriptome
February 24 2025
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Comprehensive landscape and oncogenic role of extrachromosomal circular DNA in malignant biliary strictures
- SNVs
- Cancer research
- Structural variation
- PromethION 24/48
- cfDNA
February 7 2025
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The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project
- SNVs
- Human genomics
- PromethION 24/48
- Structural variation
January 28 2025
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Nanopore-based consensus sequencing enables accurate multimodal tumour cell-free DNA profiling
- SNVs
- Cancer research
- cfDNA
- MinION
- PromethION
January 13 2025
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Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders
- SNVs
- Methylation
- Human genomics
- Clinical research
- Whole genome
- Structural variation
January 10 2025
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Nanopore adaptive sampling accurately detects nucleotide variants and improves the characterisation of large-scale rearrangement
- SNVs
- Human genomics
- Cancer research
- Adaptive sampling
- Q20+
- MinION
January 9 2025
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MrHAMER2: high-accuracy long-read RNA sequencing to decode isoform-specific variation in viral transcripts during latency
- SNVs
- Virus
- Splice variation
- Long-read
- Isoforms
- RNA
December 22 2024
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Assessing the readiness of Oxford Nanopore sequencing for clinical genomics applications
- SNVs
- Human genomics
- Variant calling
- PromethION
- MinKNOW
November 4 2024
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NESSI-Seq: novel cfDNA methylation assays for biomarker discovery and precision medicine
- SNVs
- Biopharma
- Cancer research
- Bioinformatics
- Human genomics
- PromethION
September 18 2024
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Antibody discovery through post-vaccination single-cell transcriptomics and haplotype-resolved germline sequencing
- SNVs
- Biopharma
- Clinical research
- Bioinformatics
- Human genomics
- Infectious disease
September 18 2024
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Ultra-rich human data — variant analysis with EPI2ME
- SNVs
- Bioinformatics
- Human genomics
- Population genomics
- EPI2ME
- Epigenetics
September 17 2024
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Transforming cancer care: redefining cancer characterization and predisposition insights through nanopore sequencing
- SNVs
- Cancer research
- Human genomics
- MinION
- Flongle
- Epigenetics
September 17 2024
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Showcase: Carrier screening
- SNVs
- Cancer research
- Clinical research
- Bioinformatics
- Human genomics
- Population genomics
September 17 2024