Molecular genetic testing and the future of clinical genomics.
| dc.contributor.author | Katsanis, Sara Huston | |
| dc.contributor.author | Katsanis, Nicholas | |
| dc.date.accessioned | 2018-10-05T15:41:49Z | |
| dc.date.available | 2018-10-05T15:41:49Z | |
| dc.date.issued | 2013-06 | |
| dc.date.updated | 2018-10-05T15:41:48Z | |
| dc.description.abstract | Genomic technologies are reaching the point of being able to detect genetic variation in patients at high accuracy and reduced cost, offering the promise of fundamentally altering medicine. Still, although scientists and policy advisers grapple with how to interpret and how to handle the onslaught and ambiguity of genome-wide data, established and well-validated molecular technologies continue to have an important role, especially in regions of the world that have more limited access to next-generation sequencing capabilities. Here we review the range of methods currently available in a clinical setting as well as emerging approaches in clinical molecular diagnostics. In parallel, we outline implementation challenges that will be necessary to address to ensure the future of genetic medicine. | |
| dc.identifier | nrg3493 | |
| dc.identifier.issn | 1471-0056 | |
| dc.identifier.issn | 1471-0064 | |
| dc.identifier.uri | ||
| dc.language | eng | |
| dc.publisher | Springer Science and Business Media LLC | |
| dc.relation.ispartof | Nature reviews. Genetics | |
| dc.relation.isversionof | 10.1038/nrg3493 | |
| dc.subject | Animals | |
| dc.subject | Humans | |
| dc.subject | Oligonucleotide Array Sequence Analysis | |
| dc.subject | Molecular Diagnostic Techniques | |
| dc.subject | Karyotyping | |
| dc.subject | Sequence Analysis, DNA | |
| dc.subject | Genomics | |
| dc.subject | Polymorphism, Single Nucleotide | |
| dc.subject | United States | |
| dc.subject | Evaluation Studies as Topic | |
| dc.subject | Genome-Wide Association Study | |
| dc.subject | Genetic Testing | |
| dc.title | Molecular genetic testing and the future of clinical genomics. | |
| dc.type | Journal article | |
| duke.contributor.orcid | Katsanis, Sara Huston|0000-0002-5044-8765 | |
| pubs.begin-page | 415 | |
| pubs.end-page | 426 | |
| pubs.issue | 6 | |
| pubs.organisational-group | School of Medicine | |
| pubs.organisational-group | Duke | |
| pubs.organisational-group | Duke Cancer Institute | |
| pubs.organisational-group | Institutes and Centers | |
| pubs.organisational-group | Cell Biology | |
| pubs.organisational-group | Basic Science Departments | |
| pubs.organisational-group | Pediatrics | |
| pubs.organisational-group | Clinical Science Departments | |
| pubs.organisational-group | Institutes and Provost's Academic Units | |
| pubs.organisational-group | Duke Science & Society | |
| pubs.organisational-group | Initiatives | |
| pubs.publication-status | Published | |
| pubs.volume | 14 |
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