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.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
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
Haploview: analysis and visualization of LD and haplotype maps
Barrett, J. C., Fry, B., Maller, J., & Daly, M. J. (2004) · Bioinformatics · doi:10.1093/bioinformatics/bth457 · Cited by 14,563
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
SIFT: predicting amino acid changes that affect protein function
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
Risch, N., & Merikangas, K. (1996) · Science · doi:10.1126/science.273.5281.1516 · Cited by 5,355
A Comparison of Bayesian Methods for Haplotype Reconstruction from Population Genotype Data
Stephens, M., & Donnelly, P. (2003) · The American Journal of Human Genetics · doi:10.1086/379378 · Cited by 3,516
Research works printed but not linked: 6
- Betticher DC, 1995, Oncogene, 11, 1005
- Clark AG, 1990, Mol. Biol. Evol., 7, 111
- Excoffier L, 1995, Mol. Biol. Evol., 12, 921
- Long JC, 1995, Am. J. Hum. Genet., 56, 799
- McCluskey J, 1999, Rev. Immunogenet., 1, 3
- Barrett JC, 2004, Bioinformatics
Cited by
Sorted by citations
Items 301–345 of 345
Guerrón, C., & Irene, N. (2010) · Repositorio Institucional de la Universidad de las Fuerzas Armadas ESPE (Universidad de las Fuerzas Armadas ESPE)
New mutation haplotypes in non-syndromic hearing loss.
Rai, B., & Sharif, F. (2015) · PubMed
Haplotype inferring via galled-tree networks
Zhao, X. H. (2008) · Summit (Simon Fraser University)
Dan, L. A. (2014) · Memorial University Research Repository (Memorial University)
EM GENES ASSOCIADOS À APOPTOSE E SUSCEPTIBILIDADE GENÉTICA PARA O CANCRO DA MAMA
Ciências, F. D. (2008)
The IL19 Subfamily of Cytokines
Vasar, E., Kingo, K., Silm, H., & Kõks, S. (2006) · CRC Press eBooks · doi:10.1201/9781420005325.ch11
Genetic variation of tight junction structures in intestinal inflammation
Norén, E. (2016) · Figshare
Walsh, S. J. (2017) · Biological Research For Nursing · doi:10.1177/1099800417690253
Genetic Variations Associated with Resistance to Doxorubicin and Paclitaxel in Breast Cancer
Ibrahim-zada, I. (2012) · TSpace (University of Toronto)
Circulating and genetic factors in colorectal cancer : Potential factors for establishing prognosis?
Olsen, R. S. (2017) · Linköping University medical dissertations · doi:10.3384/diss.diva-136841
Azevedo, A. M. M. (2017) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/d.17.2017.tde-22082017-155237
Chakim, I., Astuti, R., & Sayono, S. (2018) · The Open Infectious Diseases Journal · doi:10.2174/1874279301810010124
Rajkumar, S., Vidya, N. G., & Vasavada, A. R. (2019) · Ophthalmic Genetics · doi:10.1080/13816810.2019.1582068
Biomarkers of Inflammation and Intestinal Mucosa Pathology in Celiac Disease
Bragde, H. G. (2019) · Linköping University medical dissertations · doi:10.3384/diss.diva-156088
徐本力 (2009) · 天津体育学院学报
Cheung, K., To, M. K.-T., Ho, D. W., & Song, Y. (2015) · Springer eBooks · doi:10.1007/978-3-662-48284-1_2
Metaloproteinases de matriz e depressão: influência genética e impacto clínico
Pereira, S. C. (2021) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.17.2021.tde-14042022-125011
Cheung, K., Ho, D. W., & Song, Y. (2010) · Springer eBooks · doi:10.1007/978-3-540-85207-0_4
Evaluación de panel SNP en genes candidatos de vías metabólicas para carne en Hereford
Sica, A. B., Ravagnolo, O., Brito, G., Baldi, F. S., LaManna, A., Banchero, G., Navajas, E. A., Rincón, G., & Medrano, M. (2013) · Archivos de Zootecnia · doi:10.21071/az.v63i241.565
de Melo, I. B. (2022) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/d.17.2022.tde-20062022-145230
Kalani, M., Mahdavizadeh, N., Fazeli, P., Choopanizadeh, M., Jafari, M., & Parvaresh, S. (2022) · Human Gene · doi:10.1016/j.humgen.2022.201124
Gen AdipoQ Polymorphism on Type 2 Diabetes Mellitus Patients
Punjungsari, T. N. (2023) · Advances in engineering research/Advances in Engineering Research · doi:10.2991/978-94-6463-148-7_41
Biomarcadores usados no diagnóstico e progressão da periodontite.
Coutinho, F. D. L., de Campos, B. O., & de Moura, G. B. (2023) · Brazilian Journal of Implantology and Health Sciences · doi:10.36557/2674-8169.2023v5n4p1437-1449
SNP (Single Nucleotide Polymorphism) at Adiponectin Gene in Type 2 Diabetes Mellitus (T2DM) Patients
Punjungsari, T. N. (2024) · El-Hayah Jurnal Biologi · doi:10.18860/elha.v9i2.20643
Abrahams-October, Z., Kippie, Y., Pearce, K. M., Johnson, R., & Benjeddou, M. (2024) · Research Square · doi:10.21203/rs.3.rs-4212700/v1
Novel genetic structures associated with adverse response to chemotherapy in breast cancer
Gholami, M., Asouri, M., Ahmadi, A. A., & Nasirikenari, M. (2024) · Journal of Oncology Pharmacy Practice · doi:10.1177/10781552241278312
Rueda‐Gotor, J., López-Mejías, R., Remuzgo-Martínez, S., Pulito-Cueto, V., Corrales, A., Lera‐Gómez, L., Portilla, V., Gonzalez-Mazón, I., Blanco, R., Expósito, R., et al. (2021) · Figshare · doi:10.6084/m9.figshare.14411132
Molecular Genetic Studies of ALSG, Kostmann Syndrome and a Novel Chromosome 10 Inversion
Entesarian, M. (2009) · Uppsala University Publications (Uppsala University)
Zhang, Y., Liu, J., Zhi, Y., You, X., & Wei, B. (2024) · Figshare · doi:10.6084/m9.figshare.26650374
Caractérisation de nouveaux gènes de prédisposition aux cancers du rein familiaux
Adolphe, F. (2020) · theses.fr (ABES) · doi:10.70675/90d9b0efz660ez4be8z8466z2148c6dc47ad
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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review