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Long reads: their purpose and place.

Published version
Peer-reviewed

Type

Article

Change log

Authors

Pollard, Martin O 
Gurdasani, Deepti 
Mentzer, Alexander J 
Porter, Tarryn 
Sandhu, Manjinder S 

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.

Description

Keywords

Algorithms, Animals, Genomics, High-Throughput Nucleotide Sequencing, Humans, Sequence Analysis, DNA

Journal Title

Hum Mol Genet

Conference Name

Journal ISSN

0964-6906
1460-2083

Volume Title

27

Publisher

Oxford University Press (OUP)