title: Disease-targeted sequencing: a cornerstone in the clinic.
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.
authors.affiliation: Department of Pathology, Harvard Medical School, Boston, Massachusetts 02115, USA. hrehm@partners.org
authors.forename: Heidi L
authors.initials: HL
authors.lastname: Rehm
mesh_terms: D056726:Genetic Association Studies / Q000379:methods; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D015894:Genome, Human / Q000235:genetics; D023281:Genomics / Q000379:methods; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D015203:Reproducibility of Results; D057170:Translational Research, Biomedical / Q000379:methods*