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682 results
Aneuploidy detection in pooled polar bodies using rapid nanopore sequencing
- Human genomics
- Reproductive medicine
- DNA
April 20 2024
Complete diploid isogenomic human reference genomes for epigenetic precision
- Human genomics
- Assembly
- Structural variation
April 18 2024
Stability of mosaic divergent repeat interruptions in X-linked dystonia-parkinsonism
- Human genomics
- Structural variation
- GridION
- Targeted
April 14 2024
Human telomere length is chromosome end–specific and conserved across individuals
- Human genomics
- MinION
- Targeted
- Structural variation
- Long-read
April 11 2024
Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases
- Human genomics
- Clinical research
- Long-read
- Structural variation
- PromethION
April 9 2024
Uncovering RNA splicing’s cell-specific impact on clonal blood disorders with GoT-Splice
- Methylation
- Epigenetics
- Human genomics
April 8 2024
Profiling age and body fluid DNA methylation markers
- Methylation
- Human genomics
- Epigenetics
April 4 2024
Long-read sequencing reveals the RNA isoform repertoire of neuropsychiatric risk genes in human brain
- RNA
- Isoforms
- Transcriptome
- cDNA
- Neuroscience
- Human genomics
- GridION
- Long-read
April 3 2024
Precise break point mapping of balanced reciprocal translocation cases using long-read sequencing
- Human genomics
- Clinical research
- PromethION
- Variant calling
- Structural variation
- Methylation
April 3 2024
De novo antibody discovery in human blood from full-length single B cell transcriptomics and matching haplotyped-resolved germline assemblies
- Single cell
- PromethION
- Human genomics
- Transcriptomics
- Phasing
- Gene expression
- P2
- Immunology
March 29 2024
Brochure: multiomic sequencing
- Human genomics
- Clinical research
- DNA
- gDNA
- cDNA
- RNA
- Direct analysis
- Transcriptome
- Epigenetics
- Methylation
- Whole genome
- Gene fusions
- Splice variation
- Isoforms
- Cancer research
- Single cell
March 13 2024
A comparison of methods for detecting DNA methylation from long-read sequencing of human genomes
- Epigenetics
- DNA
- Human genomics
- Methylation
March 11 2024
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalogue of human genetic variation
- Human genomics
- PromethION
- Methylation
- Structural variation
March 7 2024
Nanopore sequencing with T2T-CHM13 for accurate detection and preventing the transmission of structural rearrangements in highly repetitive heterochromatin regions in human embryos
- Human genomics
- Structural variation
- PromethION
March 6 2024
Mapping RNA modifications in the human brain with full-length transcript sequencing
- RNA
- cDNA
- Human genomics
- Transcriptome
- Epigenetics
- Clinical research
- Isoforms
- Splice variation
March 4 2024
Core webinar: Comprehensive analysis of human variants and cancer genomes with multi-omic nanopore sequencing
- Human genomics
February 29 2024
Detecting somatic mutations without matched normal samples using long reads
- Cancer research
- Human genomics
- Variant calling
- Structural variation
- SNVs
February 29 2024
Workflow: Direct RNA sequencing
- Workflow
- RNA
- cDNA
- Methylation
- Epigenetics
- Human genomics
- Clinical research
- Isoforms
- Splice variation
- Transcriptome
February 26 2024
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in *GBA1*
- Structural variation
- Human genomics
- PromethION
February 24 2024
A dual-mode targeted nanopore sequencing assay for comprehensive *SMN1* and *SMN2* variant analysis
- Human genomics
- Clinical research
- Structural variation
February 23 2024