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Hum Mol Genet. 2018 Aug 1;27(R2):R234-R241. doi: 10.1093/hmg/ddy177.

Long reads: their purpose and place.

Author information

1
Human Genetics - Wellcome Sanger Institute, Hinxton, Cambridge, UK.
2
University of Cambridge - Department of Medicine, Addenbrookes Hospital, Box 157, Hills Road, Cambridge, UK.
3
Wellcome Centre for Human Genetics, Roosevelt Drive, Oxford, UK.

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.

PMID:
29767702
PMCID:
PMC6061690
DOI:
10.1093/hmg/ddy177
[Indexed for MEDLINE]
Free PMC Article

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