The DOI matches its Crossref record; 26 of the 26 references it cites were found in a registry or an index.
Whole-Genome Sequencing for Optimized Patient Management
Open accessAbstract
A disease mutation identified by whole-genome sequencing of twins with dystonia allowed optimization of treatment, resulting in clinical improvements.
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Cites
The Sequence Alignment/Map format and SAMtools
Li, H., Handsaker, B., Wysoker, A., Fennell, T., Ruan, J., Homer, N., Marth, G., Abecasis, G., Durbin, R., & 1000 Genome Project Data Processing Subgroup (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp352 · Cited by 62,041
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Wang, K., Li, M., & Hakonarson, H. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq603 · Cited by 14,621
The sequence of the human genome
Venter, J. C., Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J., Sutton, G. G., Smith, H. O., Yandell, M., Evans, C. A., Holt, R. A., et al. (2001) · Science · doi:10.1126/science.1058040 · Cited by 13,909
A map of human genome variation from population-scale sequencing.
The 1000 Genomes Project Consortium (2010) · Nature · doi:10.1038/nature09534 · Cited by 7,877
dbSNP: the NCBI database of genetic variation
Sherry, S. T. (2001) · Nucleic Acids Research · doi:10.1093/nar/29.1.308 · Cited by 7,502
The SWISS-PROT protein knowledgebase and its supplement TrEMBL in 2003
Boeckmann, B. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg095 · Cited by 3,890
The complete genome of an individual by massively parallel DNA sequencing
Wheeler, D. A., Srinivasan, M., Egholm, M., Shen, Y., Chen, L., McGuire, A., He, W., Chen, Y.-J., Makhijani, V., Roth, G. T., et al. (2008) · Nature · doi:10.1038/nature06884 · Cited by 1,838
Self-citationThe Sequence of the Human Genome
Venter, J. C., Smith, H. O., & Adams, M. D. (2015) · Clinical Chemistry · doi:10.1373/clinchem.2014.237016 · Cited by 1,648
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
Choi, M., Scholl, U. I., Ji, W., Liu, T., Tikhonova, I. R., Zumbo, P., Nayir, A., Bakkaloğlu, A., Özen, S., Sanjad, S., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0910672106 · Cited by 1,329
Richards, C. S., Bale, S., Bellissimo, D. B., Das, S., Grody, W. W., Hegde, M. R., Lyon, E., & Ward, B. E. (2008) · Genetics in Medicine · doi:10.1097/gim.0b013e31816b5cae · Cited by 832
Cited by
Ashley, E. A. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.86 · Cited by 1,116
Personalized medicine: motivation, challenges, and progress
Goetz, L. H., & Schork, N. J. (2018) · Fertility and Sterility · doi:10.1016/j.fertnstert.2018.05.006 · Cited by 976
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
Chong, J. X., Buckingham, K. J., Jhangiani, S. N., Boehm, C., Sobreira, N., Smith, J. D., Harrell, T. M., McMillin, M. J., Wiszniewski, W., Gambin, T., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.06.009 · Cited by 643
Self-citationRapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units
Saunders, C. J., Miller, N. A., Soden, S. E., Dinwiddie, D. L., Noll, A., Alnadi, N. A., Andraws, N., Patterson, M. L., Krivohlavek, L. A., Fellis, J., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3004041 · Cited by 656
Diagnostic Clinical Genome and Exome Sequencing
Biesecker, L. G., & Green, R. C. (2014) · New England Journal of Medicine · doi:10.1056/nejmra1312543 · Cited by 607
Metadata
- Authors
- Bainbridge, M. N., Wiszniewski, W., Murdock, D. R., Friedman, J., Gonzaga-Jauregui, C., Newsham, I., Reid, J. G., Fink, J. K., Morgan, M. B., Gingras, M.-C., Muzny, D. M., Hoang, L. D., Yousaf, S., Lupski, J. R., & Gibbs, R. A.
- Venue
- Science Translational Medicine
- Published
- 2011-06-15
- Volume
- 03
- Issue
- 87
- Pages
- 87re3-87re3
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- OpenAlex
- W2106914804
- Cited by
- 295
- References
- 26
- FWCI
- 25.01
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: Whole-Genome Sequencing for Optimized Patient Management. https://app.cochat.ai/papers/10.1126/scitranslmed.3002243
- The paper
- Bainbridge, M. N., Wiszniewski, W., Murdock, D. R., Friedman, J., Gonzaga-Jauregui, C., Newsham, I., Reid, J. G., Fink, J. K., Morgan, M. B., Gingras, M.-C., Muzny, D. M., Hoang, L. D., Yousaf, S., Lupski, J. R., & Gibbs, R. A. (2011). Whole-Genome Sequencing for Optimized Patient Management. Science Translational Medicine. https://doi.org/10.1126/scitranslmed.3002243
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
