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Review
. 2013 Jul;14(7):460-70.
doi: 10.1038/nrg3455. Epub 2013 Jun 11.

Sequencing studies in human genetics: design and interpretation

David B Goldstein  1 , Andrew Allen, Jonathan Keebler, Elliott H Margulies, Steven Petrou, Slavé Petrovski, Shamil Sunyaev
Affiliations
Review

Sequencing studies in human genetics: design and interpretation

David B Goldstein et al. Nat Rev Genet. 2013 Jul.

Abstract

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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Conflict of interest statement

Competing interests statement

The authors declare no competing financial interests.

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