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Advancing human genetics research with nanopore sequencing white paper

White paper

Date: 1st October 2019

High-throughput sequencing technologies have revolutionised the field of human genetics, allowing researchers to more easily investigate and understand biological processes and their impact. Using these technologies, researchers can analyse entire genomes or specific targeted regions of interest, with further functional insights garnered through the characterisation and quantification of RNA transcripts and isoforms. Together, these capabilities have provided unprecedented insight into human genetic diversity and its implications in health and disease.

Despite offering significant advancement in terms of speed and resolution over the older techniques of Sanger sequencing and microarrays respectively, there are still a number of limitations inherent to traditional short-read, high-throughput sequencing platforms. From closing genome gaps to characterising full-length transcripts, this review will present how real-time, long-read, high-throughput nanopore sequencing technology is being used to address these limitations, resulting in new biological insights. Specific case studies reveal how researchers are applying the benefits of nanopore technology to a variety of sequencing techniques, including whole genome, targeted and RNA sequencing.

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