Population genomics
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Get a complete picture of the human genome on a single platform
The advent of high-throughput next-generation sequencing (NGS) technologies has driven the field of population genomics — the large-scale comparison of genomes within a population — however, the field has been fundamentally limited by the representation of such a small proportion of genetic diversity.
Oxford Nanopore technology enables researchers to capture global human genomic diversity using sequencing reads of unrestricted length (up to 4 Mb). Any-length reads not only lead to the generation of gapless, reference-quality, telomere-to-telomere (T2T) genome assemblies in under-represented populations, but also to the generation of near-chromosome-level, population-representative pangenomes.
High-throughput nanopore sequencing enriches variant discovery in different populations across 1,000s to 10,000s of samples by resolving and phasing single nucleotide variants (SNVs), structural variants (SVs), copy number variants (CNVs), repeats, and DNA methylation, even within complex genomic regions such as centromeres and segmental duplications — all on a single platform.
Featured content
Streamlined, high-throughput whole-genome nanopore sequencing
Discover how our end-to-end workflow for genome-wide analysis of genomic and epigenomic variants across a large cohort of human clinical research samples generates accurate SNV, SV, CNV, short tandem repeat, and methylation results in a single assay.
Using long-read sequencing for translational health research
In this presentation, learn how the NIHR BioResource is trialling the use of long-read sequencing (LRS) in three large-scale translational health research projects.
Recommended device for population genomics
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PromethION 24
Combining up to 24 independently addressable, high-capacity flow cells with powerful, integrated compute, PromethION 24 delivers flexible, on-demand access to terabases of ultra-rich sequencing data — ideal for comprehensive variant identification across large numbers of clinical research samples.
