Coming of age: ten years of next-generation sequencing technologies

Goodwin, S., McPherson, J. D., McCombie, W. R. (May 2016) Coming of age: ten years of next-generation sequencing technologies. Nat Rev Genet, 17 (6). pp. 333-51. ISSN 1471-0064 (Electronic)1471-0056 (Linking)

Abstract

Since the completion of the human genome project in 2003, extraordinary progress has been made in genome sequencing technologies, which has led to a decreased cost per megabase and an increase in the number and diversity of sequenced genomes. An astonishing complexity of genome architecture has been revealed, bringing these sequencing technologies to even greater advancements. Some approaches maximize the number of bases sequenced in the least amount of time, generating a wealth of data that can be used to understand increasingly complex phenotypes. Alternatively, other approaches now aim to sequence longer contiguous pieces of DNA, which are essential for resolving structurally complex regions. These and other strategies are providing researchers and clinicians a variety of tools to probe genomes in greater depth, leading to an enhanced understanding of how genome sequence variants underlie phenotype and disease.

Item Type: Paper
Subjects: Investigative techniques and equipment > assays > next generation sequencing
CSHL Authors:
Communities: CSHL Cancer Center Program > Cancer Genetics
CSHL labs > McCombie lab
CSHL Cancer Center Program > Cancer Genetics and Genomics Program
Depositing User: Matt Covey
Date: 17 May 2016
Date Deposited: 24 May 2016 19:57
Last Modified: 15 Nov 2023 16:14
PMCID: PMC10373632
Related URLs:
URI: https://repository.cshl.edu/id/eprint/32810

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