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Workflow: large cohort sequencing

Literature

Date: 12th October 2023

The analysis of large cohorts of clinical research samples is critical to advancing our understanding of the mechanisms of disease and identifying novel biomarkers. Furthermore, to address the lack of representaton of global diversity in clinical research, whole-genome sequencing of research samples across underrepresented populations is crucial.

The ability to comprehensively capture both genomic and epigenomic variation across the genome is essential to advancing clinical research. With long, PCR-free nanopore sequencing reads, single nucleotide variants (SNVs), SVs, copy number variants (CNVs), short tandem repeat expansions, and methylation can be captured within a single sequencing run, including in previously intractable regions of the genome. With the ability to sequence up to 2,496 human genomes per year on a single PromethION 24 device and perform real-time basecalling and data analysis, nanopore technology enables you to sequence at the scale you need in your own lab, for the complete picture of the human genome — finally.

Here we present an end-to-end workflow for genome-wide analysis of genomic and epigenomic variants across a large cohort of human clinical research samples using the PromethION 24 device.

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