Long reads: their purpose and place

2018/05/08 by Martin O Pollard, Martin Pollard, Deepti Gurdasani +5 · 2 citations
Biochemistry, Genetics and Molecular Biology · #CRISPR and Genetic Engineering #Genomics and Phylogenetic Studies #Single-cell and spatial transcriptomics

paper · pdf · doi:10.1093/hmg/ddy177

openalex publication_date 2018/05/08 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01

Abstract

In recent years long-read technologies have moved from being a niche and specialist field to a point of relative maturity likely to feature frequently in the genomic landscape. Analogous to next generation sequencing, the cost of sequencing using long-read technologies has materially dropped whilst the instrument throughput continues to increase. Together these changes present the prospect of sequencing large numbers of individuals with the aim of fully characterizing genomes at high resolution. In this article, we will endeavour to present an introduction to long-read technologies showing: what long reads are; how they are distinct from short reads; why long reads are useful and how they are being used. We will highlight the recent developments in this field, and the applications and potential of these technologies in medical research, and clinical diagnostics and therapeutics.

Citations

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