Advancing human genomics with nanopore sequencing white paper
From closing genome gaps to characterising full-length transcripts, this review presents how long and ultra-long reads, delivered by real-time nanopore sequencing technology are advancing our understanding of the human genome. 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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High-throughput sequencing technologies have revolutionised the field of human genetics, allowing researchers to more easily investigate and understand biological processes and their impact. However, the inherent limitations of traditional short-read sequencing technologies preclude the analysis of many forms of genomic variation — from repeat regions, structural variants, and phasing to full-length transcript isoforms and methylation.
This white paper describes how researchers are now utilising nanopore sequencing to overcome these challenges, to deliver a more comprehensive understanding of the human genome and genetic diseases.