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Sequencing studies in human genetics: design and interpretation.

Publication ,  Journal Article
Goldstein, DB; Allen, A; Keebler, J; Margulies, EH; Petrou, S; Petrovski, S; Sunyaev, S
Published in: Nat Rev Genet
July 2013

Next-generation sequencing is becoming the primary discovery tool in human genetics. There have been many clear successes in identifying genes that are responsible for Mendelian diseases, and sequencing approaches are now poised to identify the mutations that cause undiagnosed childhood genetic diseases and those that predispose individuals to more common complex diseases. There are, however, growing concerns that the complexity and magnitude of complete sequence data could lead to an explosion of weakly justified claims of association between genetic variants and disease. Here, we provide an overview of the basic workflow in next-generation sequencing studies and emphasize, where possible, measures and considerations that facilitate accurate inferences from human sequencing studies.

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Published In

Nat Rev Genet

DOI

EISSN

1471-0064

Publication Date

July 2013

Volume

14

Issue

7

Start / End Page

460 / 470

Location

England

Related Subject Headings

  • Sequence Analysis, DNA
  • Risk Factors
  • Mutation
  • Models, Genetic
  • Humans
  • Genotype
  • Genome
  • Genetics, Population
  • Genetic Variation
  • Genetic Predisposition to Disease
 

Citation

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Goldstein, D. B., Allen, A., Keebler, J., Margulies, E. H., Petrou, S., Petrovski, S., & Sunyaev, S. (2013). Sequencing studies in human genetics: design and interpretation. Nat Rev Genet, 14(7), 460–470. https://doi.org/10.1038/nrg3455
Goldstein, David B., Andrew Allen, Jonathan Keebler, Elliott H. Margulies, Steven Petrou, Slavé Petrovski, and Shamil Sunyaev. “Sequencing studies in human genetics: design and interpretation.Nat Rev Genet 14, no. 7 (July 2013): 460–70. https://doi.org/10.1038/nrg3455.
Goldstein DB, Allen A, Keebler J, Margulies EH, Petrou S, Petrovski S, et al. Sequencing studies in human genetics: design and interpretation. Nat Rev Genet. 2013 Jul;14(7):460–70.
Goldstein, David B., et al. “Sequencing studies in human genetics: design and interpretation.Nat Rev Genet, vol. 14, no. 7, July 2013, pp. 460–70. Pubmed, doi:10.1038/nrg3455.
Goldstein DB, Allen A, Keebler J, Margulies EH, Petrou S, Petrovski S, Sunyaev S. Sequencing studies in human genetics: design and interpretation. Nat Rev Genet. 2013 Jul;14(7):460–470.

Published In

Nat Rev Genet

DOI

EISSN

1471-0064

Publication Date

July 2013

Volume

14

Issue

7

Start / End Page

460 / 470

Location

England

Related Subject Headings

  • Sequence Analysis, DNA
  • Risk Factors
  • Mutation
  • Models, Genetic
  • Humans
  • Genotype
  • Genome
  • Genetics, Population
  • Genetic Variation
  • Genetic Predisposition to Disease