Disease-targeted sequencing: a cornerstone in the clinic

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

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Genetic Association Studies / methods
  • Genetic Predisposition to Disease / genetics*
  • Genome, Human / genetics
  • Genomics / methods
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Molecular Diagnostic Techniques / methods*
  • Reproducibility of Results
  • Translational Medical Research / methods*