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

Sara Goodwin, John Douglas Mcpherson, W. Richard McCombie

Research output: Contribution to journalReview article

1305 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)333-351
Number of pages19
JournalNature Reviews Genetics
Volume17
Issue number6
DOIs
StatePublished - Jun 1 2016

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Coming of age: Ten years of next-generation sequencing technologies'. Together they form a unique fingerprint.

  • Cite this