Journal
NATURE REVIEWS GENETICS
Volume 14, Issue 4, Pages 295-300Publisher
NATURE PORTFOLIO
DOI: 10.1038/nrg3463
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Funding
- US National Institutes of Health [U41HG006834, U01HG006500]
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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.
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