The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
dbSNP: the NCBI database of genetic variation
Open accessAbstract
In response to a need for a general catalog of genome variation to address the large-scale sampling designs required by association studies, gene mapping and evolutionary biology, the National Center for Biotechnology Information (NCBI) has established the dbSNP database [S.T.Sherry, M.Ward and K. Sirotkin (1999) Genome Res., 9, 677-679]. Submissions to dbSNP will be integrated with other sources of information at NCBI such as GenBank, PubMed, LocusLink and the Human Genome Project data. The complete contents of dbSNP are available to the public at website: http://www.ncbi.nlm.nih.gov/SNP. The complete contents of dbSNP can also be downloaded in multiple formats via anonymous FTP at ftp://ncbi.nlm.nih.gov/snp/.
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“In addition, per the Exome Sequencing Project, 1000 Genomes, and dbSNP population frequency databases that are publicly available, these ATM, BRCA1, BRCA2, and COL3A1 gene variants are found in the general population at frequencies too high to be associated with disease (Table 3) (refs.22,23,24).”
From False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care (2018) · cites this paper as [24]
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Prospects for whole-genome linkage disequilibrium mapping of common disease genes
Kruglyak, L. (1999) · Nature Genetics · doi:10.1038/9642 · Cited by 1,416
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Signatures of mutational processes in human cancer
Initiative, A. P. C. G., Alexandrov, L. B., ICGC Breast Cancer Consortium, ICGC MMML-Seq Consortium, PedBrain, I., Nik-Zainal, S., Wedge, D. C., Aparicio, S. A. J. R., Behjati, S., Biankin, A. V., et al. (2013) · Nature · doi:10.1038/nature12477 · Cited by 9,660
The Ensembl Variant Effect Predictor
McLaren, W., Gil, L., Hunt, S. E., Riat, H. S., Ritchie, G. R. S., Thormann, A., Flicek, P., & Cunningham, F. (2016) · Genome Biology · doi:10.1186/s13059-016-0974-4 · Cited by 8,099
Van der Auwera, G. A., Carneiro, M. O., Hartl, C., Poplin, R., del Angel, G., Levy‐Moonshine, A., Jordan, T., Shakir, K., Roazen, D., Thibault, J., et al. (2013) · Current Protocols in Bioinformatics · doi:10.1002/0471250953.bi1110s43 · Cited by 6,687
The International HapMap Project
†The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Chinese HapMap Consortium, Yang, H., Ch'ang, L.-Y., et al. (2003) · Nature · doi:10.1038/nature02168 · Cited by 6,057
Self-citationHigh-throughput droplet digital PCR system for absolute quantitation of DNA copy number
Hindson, B. J., Ness, K. D., Masquelier, D. A., Belgrader, P., Heredia, N. J., Makarewicz, A. J., Bright, I. J., Lucero, M. Y., Hiddessen, A. L., Legler, T. C., et al. (2011) · Analytical Chemistry · doi:10.1021/ac202028g · Cited by 2,792
Metadata
- Authors
- Sherry, S. T.
- Affiliations
- National Institutes of Health (US)
- Corresponding author
- Sherry, S. T.
- ORCID
- Sherry, S. T.
- Venue
- Nucleic Acids Research
- Publisher
- Oxford University Press (OUP)
- Published
- 2001-01-01
- Volume
- 29
- Issue
- 1
- Pages
- 308-311
- ISSN
- 0305-1048 (ISSN-L)
- 1362-4962
- PMC
- PMC29783
- OpenAlex
- W2122732537
- Cited by
- 7,502
- References
- 1
- Citations by year
- 2026: 254 · 2025: 378 · 2024: 478 · 2023: 442 · 2022: 540 · 2021: 598 · 2020: 490 · 2019: 517 · 2018: 482 · 2017: 453 · 2016: 408 · 2015: 407 · 2014: 388 · 2013: 349 · 2012: 285
- FWCI
- 26.94
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Nucleic Acids Research (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Oak Ridge Institute for Science and Education
- U.S. National Library of Medicine
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Keywords
- dbSNP, single nucleotide polymorphisms, genetic variation, association studies, gene mapping, evolutionary biology, database integration, GenBank, LocusLink, Human Genome Project
- MeSH terms
- Animals, Biotechnology, Humans, Information Services, National Institutes of Health (U.S.), National Library of Medicine (U.S.), United States, Genetic Variation, Databases, Factual, Internet, Polymorphism, Single Nucleotide
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