Resources Get started
Home > Applications > Human genetics

Human genetics research with nanopore sequencing technology

Fully characterise human genetic variation with long-read, real-time nanopore sequencing technology. Sequence whole genomes, targeted regions or full-length RNA transcripts. Long nanopore reads allow comprehensive analysis of structural variation, repetitive regions, haplotype phasing, RNA splice variants, isoforms, fusion transcripts, and base modifications.

  • Resolve structural variation, breakpoints, repetitive regions, and phasing
  • Simplify de novo assembly and correct reference genomes
  • Fully characterise transcript isoforms, splice variants, and fusions
  • Eliminate bias and identify epigenetic modifications with direct sequencing
  • Get faster access to results with real-time analysis
  • Scale to your needs using Flongle, MinION, GridION, or PromethION

How will you use nanopore technology?

Whole human genome sequencing

Analysis of targeted regions

Gene expression and transcriptomics

Epigenetics research

Long sequencing reads enable resolution of challenging genomic regions and the delivery of more complete human genome assemblies. Using nanopore sequencing, read lengths in excess of 2 Mb have been generated.

Based on current internal flow cell performance of 200 Gb (October 2018).
  • Accurately resolve structural variants, breakpoints and repetitive regions
  • Simplify de novo assembly and correct reference genomes
  • Investigate linkage and haplotype phasing
  • Detect epigenetic modifications alongside nucleotide sequence
  • High yields, on demand — 1.8 Gb Flongle; 30 Gb MinION; 150 Gb GridION; 4,800/9,600 Gb PromethION P24/P48

Target and sequence large genomic regions using long nanopore reads. Characterise exons, introns, promoters, repetitive regions and structural variation in a single read — with no assembly required. Multiplex samples for even more cost-effective analyses.

*Oxford Nanopore Technologies does not sell a kit that enables CRISPR/Cas-mediated enrichment. Use of this technique may require rights to third-party owned intellectual property.
  • Cost-effectively characterise large genomic regions of interest
  • Uncover hidden variation – sequence entire genes, including exons, introns and promoters in single reads
  • Resolve structural variants, repetitive regions and phasing using long-reads
  • Your choice of enrichment strategy – PCR, hybrid-capture, CRISPR/Cas9
  • Detect epigenetic modifications using direct sequencing
  • Don’t wait for results – analyse data in real time

‘The rapid evolution of specific bioinformatic methods, and the improvements in accuracy and data yield, combined with the minimal footprint and capital investment, make the MinION a suitable platform for long-read sequencing of difficult genes such as GBA’

Leija-Salazar et al

Targeted nanopore sequencing with Cas9 for studies of methylation, structural variants and mutations

The high yields of long, full-length reads delivered by nanopore sequencing allow unambiguous characterisation and quantification of transcript isoforms – providing a true reflection of gene expression. Low input amounts combined with rapid, streamlined workflows enable highly sensitive gene expression analysis, even from single cells.

  • Full-length transcripts — unambiguous identification of splice variants and gene fusions
  • Accurate transcript and isoform quantification
  • Eliminate PCR bias using direct cDNA or direct RNA sequencing
  • Detect base modifications alongside nucleotide sequence using direct sequencing
  • Easy identification of anti-sense transcripts and lncRNA isoforms
  • New: Get higher yields from less input using the latest RNA and cDNA sequencing kits

Direct nanopore sequencing does not require amplification, strand synthesis or bisulfite conversion, reducing bias and allowing detection of modified DNA or RNA bases alongside the nucleotide sequence. Base modifications can be detected using PCR-free whole genome, whole transcriptome and targeted sequencing approaches. 

  • Cost-effectively identify modified bases and nucleotide sequence
  • Capture base modifications as standard – analyse when you are ready
  • Rapid 10-minute library prep – no bisulfite conversion required
  • Phase modified bases using long reads
  • Analyse data using Tombo, one of a growing number of tools
Open a chat to talk to our sales team