The DOI matches its Crossref record; 123 of the 123 references it cites were found in a registry or an index.
Definition And Clinical Importance Of Haplotypes.
Abstract
Advances in genotyping and sequencing technologies, coupled with the development of sophisticated statistical methods, have afforded investigators novel opportunities to define the role of sequence variation in the development of common human diseases. At the forefront of these investigations is the use of dense maps of single-nucleotide polymorphisms (SNPs) and the haplotypes derived from these polymorphisms. Here we review basic concepts of high-density genetic maps of SNPs and haplotypes and how they are typically generated and used in human genetic research. We also provide useful examples and tools available for researchers interested in incorporating haplotypes into their studies. Finally, we discuss the latest concepts for the analysis of haplotypes related to human disease, including haplotype blocks, the International HapMap Project, and the future directions of these resources.
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In the citing paper
“Since haplotypes are often more informative than individual SNPs [36], haplotype analysis was carried out.”
From The oxytocin receptor (OXTR) contributes to prosocial fund allocations in the dictator game and the social value orientations task (2009) · cites this paper as [36]
In the citing paper
“Finally, the estimation of haplotypes will be conducted in order to increase the power to detect genetic associations.69”
From Efficacy, cost-utility and physiological effects of Acceptance and Commitment Therapy (ACT) and Behavioural Activation Treatment for Depression (BATD) in patients with chronic low back pain and depression: study protocol of a randomised, controlled trial including mobile-technology-based ecological momentary assessment (IMPACT study) (2020) · cites this paper as [69]
Citations
Cites
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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
Database resources of the National Center for Biotechnology Information: update
Wheeler, D. L. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkh073 · Cited by 10,695
A New Statistical Method for Haplotype Reconstruction from Population Data
Stephens, M., Smith, N. J. C., & Donnelly, P. (2001) · The American Journal of Human Genetics · doi:10.1086/319501 · Cited by 7,512
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
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Ng, P. C. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg509 · Cited by 6,601
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
The Structure of Haplotype Blocks in the Human Genome
Gabriel, S. B., Schaffner, S. F., Nguyen, H., Moore, J. M., Roy, J., Blumenstiel, B., Higgins, J., DeFelice, M., Lochner, A., Faggart, M., et al. (2002) · Science · doi:10.1126/science.1069424 · Cited by 5,863
The Future of Genetic Studies of Complex Human Diseases
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Stephens, M., & Donnelly, P. (2003) · The American Journal of Human Genetics · doi:10.1086/379378 · Cited by 3,516
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Cited by
Sorted by citations
Emerging technologies in DNA sequencingPreprint
Metzker, M. L. (2005) · Genome Research · doi:10.1101/gr.3770505 · Cited by 524
Lerer, E., Levi, S., Salomon, S., Darvasi, A., Yirmiya, N., & Ebstein, R. P. (2008) · Molecular Psychiatry · doi:10.1038/sj.mp.4002087 · Cited by 349
Chen, H., Wilkins, L. M., Aziz, N., Cannings, C., Wyllie, D. H., Bingle, C. D., Rogus, J. J., Beck, J. D., Offenbacher, S., Cork, M. J., et al. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddi469 · Cited by 309
Whole-genome haplotype reconstruction using proximity-ligation and shotgun sequencing
Selvaraj, S., Dixon, J. R., Bansal, V., & Ren, B. (2013) · Nature Biotechnology · doi:10.1038/nbt.2728 · Cited by 294
Israel, S., Lerer, E., Shalev, I., Uzefovsky, F., Riebold, M., Laiba, E., Bachner-Melman, R., Maril, A., Bornstein, G., Knafo, A., et al. (2009) · PLoS ONE · doi:10.1371/journal.pone.0005535 · Cited by 278
“Since haplotypes are often more informative than individual SNPs [36], haplotype analysis was carried out.”
Background
Metadata
- Authors
- Crawford, D. C., & Nickerson, D. A.
- Affiliations
- University of Washington (US)
- Venue
- Annual Review of Medicine
- Publisher
- Annual Reviews
- Published
- 2005-02-01
- Volume
- 56
- Issue
- 1
- Pages
- 303-320
- ISSN
- 0066-4219 (ISSN-L)
- 1545-326X
- OpenAlex
- W2112491025
- Cited by
- 344
- References
- 123
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 10 · 2023: 9 · 2022: 12 · 2021: 13 · 2020: 10 · 2019: 8 · 2018: 9 · 2017: 11 · 2016: 16 · 2015: 19 · 2014: 17 · 2013: 18 · 2012: 25
- FWCI
- 2.58
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annual Review of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (n01es15478-9-0-0)
- National Heart, Lung, and Blood Institute (HL 66682, U01HL066682)
- National Institute of Environmental Health Sciences (ES15478)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Keywords
- haplotypes, single nucleotide polymorphisms, haplotype blocks, gene mapping, sequence variation, genetic association studies, haplotype analysis
- MeSH terms
- Chromosome Mapping, Genotype, Haplotypes, Humans, Mathematical Computing, Software, Genetic Variation, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Genetic Diseases, Inborn, Genetic Research
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