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Human genomics

Generate unprecedented insights for human genomics research

With real-time, multiomic Oxford Nanopore sequencing, you can discover previously hidden human genomic, epigenomic, and transcriptomic variation — from the population level down to the single-cell level.

Fully characterise challenging regions that cannot be resolved with legacy short-read sequencing technologies. Detect single nucleotide variants (SNVs), short tandem repeats (STRs), and DNA methylation, and generate highly contiguous genomes by spanning repeat regions and structural variants (SVs) in one go. Furthermore, with RNA sequencing, interrogate full-length RNA transcript isoforms and identify RNA base modifications, such as methylation, as standard.

With Oxford Nanopore technology, there is no limit to read length (current record >4 Mb), allowing you to reveal critical insights for human genomics research — from developmental biology and rare disease genomics to common complex diseases.


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Pharmacogenomics with Oxford Nanopore sequencing

Pharmacogenomics (PGx), the study of genomic-driven response to treatments, includes some of the genome's most challenging genes. Conventional array and legacy sequencing technologies are incapable of fully resolving the problems presented by pseudogene homology, haplotyping requirements, and complex structural variants.

Oxford Nanopore sequencing delivers the capabilities to fully resolve all the PGx variants with a single technology and a single assay. You can choose from two different methods to achieve full resolution PGx: (1) hybrid capture; and (2) adaptive sampling.


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