The DOI matches its Crossref record; 28 of the 28 references it cites were found in a registry or an index.
Disease-targeted sequencing: a cornerstone in the clinic
Open accessAbstract
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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Cites
An integrated map of genetic variation from 1,092 human genomes
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Cited by
The genetic landscape of Alzheimer disease: clinical implications and perspectives
Van Cauwenberghe, C., Van Broeckhoven, C., & Sleegers, K. (2016) · Genetics in Medicine · doi:10.1038/gim.2015.117 · Cited by 863
Genetic Misdiagnoses and the Potential for Health Disparities
Manrai, A. K., Funke, B. H., Rehm, H. L., Olesen, M. S., Maron, B. A., Szolovits, P., Margulies, D. M., Loscalzo, J., & Kohane, I. S. (2016) · New England Journal of Medicine · doi:10.1056/nejmsa1507092 · Cited by 808
Self-citationNext generation sequencing and its applications in forensic genetics
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Somatic mutations in cerebral cortical malformations
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Progress in unraveling the genetic etiology of Parkinson disease in a genomic era
Verstraeten, A., Theuns, J., & Van Broeckhoven, C. (2015) · Trends in Genetics · doi:10.1016/j.tig.2015.01.004 · Cited by 226
Metadata
- Authors
- Rehm, H. L.
- Venue
- Nature Reviews Genetics
- Published
- 2013-03-12
- Volume
- 14
- Issue
- 4
- Pages
- 295-300
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W1980291961
- Cited by
- 377
- References
- 28
- FWCI
- 7.33
- Type
- journal article
- Language
- en
- Open access
- green
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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