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218 results

Phasing

Poster
Poster: structural and epigenetic profiling of D4Z4 arrays in FSHD using Oxford Nanopore sequencing
March 9 2026
Publication
Efficient near telomere-to-telomere assembly of nanopore simplex reads
February 4 2026
Publication
Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution
January 22 2026
Publication
Long-read genome sequencing enhances diagnostics of paediatric neurological disorders
January 9 2026
Publication
Pre-phasing long reads improves structural variant genotyping
October 24 2025
Publication
Accurate somatic small variant discovery for multiple sequencing technologies with DeepSomatic
October 16 2025
Poster
Resolving challenging medically-relevant genes using nanopore sequencing
October 14 2025
Publication
Integrating long-read nanopore sequencing for precision resolution of genomic variants in dystonia
September 30 2025
Publication
A complete diploid human genome benchmark for personalised genomics
September 21 2025
Getting started guide
Getting started guide: human genomics
September 17 2025
Workflow
Workflow overview: pharmacogenomics with adaptive sampling
August 5 2025
Publication
Resolving RH and GYP hybrid alleles while accessing the entire blood group genome with nanopore adaptive sampling
June 11 2025
Poster
Multiomic data identifies skewed X-inactivation and its role in masking Mendelian inheritance patterns
May 20 2025
Poster
End-to-end workflow for haplotype-resolved genetic and epigenetic variant calling using Oxford Nanopore sequencing
May 20 2025
Video
Variant phasing for antisense oligonucleotide design using adaptive sampling
May 19 2025
Video
Using ultra-long-read Oxford Nanopore sequencing to detect complex structural variants in leukaemia
May 19 2025
Video
Nanopore-based HLA testing: a rising star driving real-world clinical implementation in pharmacogenomics
May 19 2025
Video
Masterclass: How to call variants and methylation across the human genome | LC25
May 19 2025
Video
Masterclass: How to analyse your Oxford Nanopore sequencing data | LC25
May 19 2025
Video
Long-read sequencing of an advanced cancer cohort
May 19 2025

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Poster: structural and epigenetic profiling of D4Z4 arrays in FSHD using Oxford Nanopore sequencing

Efficient near telomere-to-telomere assembly of nanopore simplex reads

Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution

Long-read genome sequencing enhances diagnostics of paediatric neurological disorders

Pre-phasing long reads improves structural variant genotyping

Accurate somatic small variant discovery for multiple sequencing technologies with DeepSomatic

Resolving challenging medically-relevant genes using nanopore sequencing

Integrating long-read nanopore sequencing for precision resolution of genomic variants in dystonia

A complete diploid human genome benchmark for personalised genomics

Getting started guide: human genomics

Workflow overview: pharmacogenomics with adaptive sampling

Resolving RH and GYP hybrid alleles while accessing the entire blood group genome with nanopore adaptive sampling

Multiomic data identifies skewed X-inactivation and its role in masking Mendelian inheritance patterns

End-to-end workflow for haplotype-resolved genetic and epigenetic variant calling using Oxford Nanopore sequencing

Variant phasing for antisense oligonucleotide design using adaptive sampling

Using ultra-long-read Oxford Nanopore sequencing to detect complex structural variants in leukaemia

Nanopore-based HLA testing: a rising star driving real-world clinical implementation in pharmacogenomics

Masterclass: How to call variants and methylation across the human genome | LC25

Masterclass: How to analyse your Oxford Nanopore sequencing data | LC25

Long-read sequencing of an advanced cancer cohort

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