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Nat Rev Genet. 2013 Apr;14(4):295-300. doi: 10.1038/nrg3463. Epub 2013 Mar 12.

Disease-targeted sequencing: a cornerstone in the clinic.

Author information

1
Department of Pathology, Harvard Medical School, Boston, Massachusetts 02115, USA. hrehm@partners.org

Abstract

With the declining cost of sequencing and the ongoing discovery of disease genes, it is now possible to examine hundreds of genes in a single disease-targeted test. Although exome- and genome-sequencing approaches are beginning to compete, disease-targeted testing retains certain advantages and still holds a firm place in the diagnostic evaluation. Here I examine the current state of clinical disease-targeted sequencing and evaluate the benefits and challenges of incorporating sequencing tests into patient care.

PMID:
23478348
PMCID:
PMC3786217
DOI:
10.1038/nrg3463
[Indexed for MEDLINE]
Free PMC Article

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