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Population genomics

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.

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