Human genomics resources

647 个结果

排序方式

Publication

Cost-efficient long-read trio-barcoded adaptive sequencing improves rare disease diagnosis

Authors: Yilei Fu, Adam C. English, Luis F. Paulin, Shalini N. Jhangiani, Nikhita Gogate, George Weissenberger, Vanessa Vee, Han Yi, Heer H. Mehta, Donna M. Muzny, Richard A. Gibbs, Jennifer ...

September 4, 2026

Publication

Resolving missing human polymorphic inversions and other complex variants from ultra-long read data

Authors: Ricardo Moreira-Pinhal, Konstantinos Karakostis, Illya Yakymenko, Oscar Conchillo, Maria Díaz-Ros, Andrés Santos, Miquel Àngel Senar, Jaime Martínez-Urtaza, Marta Puig, Mario Cáceres

September 1, 2026

Publication

Long-read single-cell transcriptomics uncovers isoform preferences in developing human retina

Authors: Lew Kaplan, Jaz Pang, Thomas A Reh

August 18, 2026

Webinar

MinION Essentials: Everything you need to know about the world’s most cost-effective and accessible sequencer

Unlock the full potential of MinION with this on-demand webinar designed for researchers at every stage of their nanopore sequencing journey.

August 6, 2026

Long read de novo sequencing from blood using SQK-LSK114 – scalable (near) telomere-to-telomere method

This protocol describes an end-to-end workflow for long read de novo sequencing of human samples. For Research Use Only

July 29, 2026

Webinar

Decoding complex disease through multiomics

In this webinar, our expert speakers will discuss how multiomic Oxford Nanopore sequencing supports a deeper understanding of disease mechanisms, by integrating DNA, RNA, and epigenetic analysis — all on a ...

July 22, 2026

Workflow overview

Workflow overview: direct RNA sequencing

This end-to-end workflow provides a simple method to characterise RNA modifications from a human blood research sample using direct RNA sequencing.

July 9, 2026

Publication

Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies

Authors: Dennis Yeow, Andre L. M. Reis, Igor Stevanovski, et al.

July 4, 2026

Publication

Long-read sequencing maps transposable element variation and its regulatory and epigenetic effects in the human brain

Authors: Alexis Ayuketah, Melissa Meredith, Cristian Groza, et al.

July 3, 2026

Getting started guide

Getting started guide: bulk transcriptomics

This guide introduces cDNA and direct RNA Oxford Nanopore sequencing, for ultra-rich transcriptomic data without compromise.

July 3, 2026

Case study

Case study: large-cohort cDNA sequencing advances multiomic insights into neurodegenerative disease

In this case study, discover how Kimberley Billingsley and her colleagues at the National Institutes of Health are using Oxford Nanopore large-cohort cDNA sequencing to research the human brain ...

July 3, 2026

Webinar

NIHR BioResource: Advancing translational research with Omics technologies

Dr Kathy Stirrups discusses her work on eating disorders and how multiomic analysis can be used to identify new variants and their function. She also presents results from the rare ...

June 15, 2026

Analysis of scalable DNA extraction using the Promega Maxwell RSC for human blood, saliva and buccal swab processing

In this study, we evaluated the Maxwell RSC extraction platform from Promega for its compatibility with Oxford Nanopore Technologies sequencing.

June 10, 2026

Publication

Identification of a novel intergenic EPCAM-MSH2 deletion causing EPCAM-associated Lynch syndrome by long-read nanopore sequencing

Publication: Identification of a novel intergenic EPCAM-MSH2 deletion causing EPCAM-associated Lynch syndrome by long-read nanopore sequencing

June 5, 2026

Publication

Third-generation nanopore sequencing for post-transplant chimerism monitoring

Publication: Third-generation nanopore sequencing for post-transplant chimerism monitoring

May 28, 2026

Publication

GAA-FGF14 ataxia is a frequently overlooked cause of sporadic adult-onset ataxia

May 28, 2026

Application note

Application note: long cDNA sequencing reads enable transcriptome analysis at isoform resolution

In this application note, we evaluated the updated Oxford Nanopore cDNA-PCR sequencing protocol updated protocol and compared its performance with that of the previous version of the protocol, Illumina ...

May 26, 2026

Event video

Which library prep workflow is right for my experiment?

Whether you’re sequencing DNA, RNA, or cDNA, a single sample or many in multiplex, there’s an Oxford Nanopore library prep kit for you. In this masterclass, discover how ...

May 19, 2026

Event video

Utility of long-read whole-genome sequencing across diverse clinical genomic investigations: a single- center experience | LC26

Long-read sequencing (LRS) is increasingly adopted in clinical genomics, driven by advances in sequencing chemistry and analytical pipelines that have substantially reduced historical error rates. Long-read whole-genome ...

May 19, 2026

Event video

Unlocking isoform programs underlying brain development with long-read single-cell RNA sequencing | LC26

Almost all human genes produce multiple mRNA products (RNA isoforms), many with distinct or even opposing functions. In the human brain, isoform diversity is exceptionally high and tightly linked to ...

May 19, 2026

耗材

所有产品

研究领域

技术

技术

公司

新闻与活动

全球合作伙伴

Human genomics

Cost-efficient long-read trio-barcoded adaptive sequencing improves rare disease diagnosis

Resolving missing human polymorphic inversions and other complex variants from ultra-long read data

Long-read single-cell transcriptomics uncovers isoform preferences in developing human retina

MinION Essentials: Everything you need to know about the world’s most cost-effective and accessible sequencer

Long read de novo sequencing from blood using SQK-LSK114 – scalable (near) telomere-to-telomere method

Decoding complex disease through multiomics

Workflow overview: direct RNA sequencing

Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies

Long-read sequencing maps transposable element variation and its regulatory and epigenetic effects in the human brain

Getting started guide: bulk transcriptomics

Case study: large-cohort cDNA sequencing advances multiomic insights into neurodegenerative disease

NIHR BioResource: Advancing translational research with Omics technologies

Analysis of scalable DNA extraction using the Promega Maxwell RSC for human blood, saliva and buccal swab processing

Identification of a novel intergenic EPCAM-MSH2 deletion causing EPCAM-associated Lynch syndrome by long-read nanopore sequencing

Third-generation nanopore sequencing for post-transplant chimerism monitoring

GAA-FGF14 ataxia is a frequently overlooked cause of sporadic adult-onset ataxia

Application note: long cDNA sequencing reads enable transcriptome analysis at isoform resolution

Which library prep workflow is right for my experiment?

Utility of long-read whole-genome sequencing across diverse clinical genomic investigations: a single- center experience | LC26

Unlocking isoform programs underlying brain development with long-read single-cell RNA sequencing | LC26

入门指南

联系我们

关于 Oxford Nanopore