The DOI matches its Crossref record; 19 of the 19 references it cites were found in a registry or an index.
Choosing Haplotype-Tagging SNPS Based on Unphased Genotype Data Using a Preliminary Sample of Unrelated Subjects with an Example from the Multiethnic Cohort Study
Abstract
We describe an approach for picking haplotype-tagging single nucleotide polymorphisms (htSNPs) that is presently being taken in two large nested case-control studies within a multiethnic cohort (MEC), which are engaged in a search for associations between risk of prostate and breast cancer and common genetic variations in candidate genes. Based on a preliminary sample of 70 control subjects chosen at random from each of the 5 ethnic groups in the MEC we estimate haplotype frequencies using a variant of the Excoffier-Slatkin E-M algorithm after genotyping a high density of SNPs selected every 3–5 kb in and surrounding a candidate gene. In order to evaluate the performance of a candidate set of htSNPS (which will be genotyped in the much larger case-control sample) we treat the haplotype frequencies estimate above as known, and carry out a formal calculation of the uncertainty of the number of copies of common haplotypes carried by an individual, summarizing this calculation as a coefficient of determination, R2h. A candidate set of htSNPS of a given size is chosen so as to maximize the minimum value of R2h over the common haplotypes, h.
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Cites
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Haplotype tagging for the identification of common disease genes
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Blocks of Limited Haplotype Diversity Revealed by High-Resolution Scanning of Human Chromosome 21
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Cited by
A haplotype map of the human genome
The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858
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Mapping complex disease loci in whole-genome association studies
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Association studies for finding cancer-susceptibility genetic variants
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Metadata
- Authors
- Stram, D. O., Haiman, C. A., Hirschhorn, J. N., Altshuler, D., Kolonel, L. N., Henderson, B. E., & Pike, M. C.
- Venue
- Human Heredity
- Publisher
- S. Karger AG
- Published
- 2003
- Volume
- 55
- Issue
- 1
- Pages
- 27-36
- ISSN
- 0001-5652 (ISSN-L)
- 1423-0062
- OpenAlex
- W2109342343
- Cited by
- 406
- References
- 19
- FWCI
- 29.30
- Type
- journal article
- Language
- en
- Open access
- closed
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- Stram, D. O., Haiman, C. A., Hirschhorn, J. N., Altshuler, D., Kolonel, L. N., Henderson, B. E., & Pike, M. C. (2003). Choosing Haplotype-Tagging SNPS Based on Unphased Genotype Data Using a Preliminary Sample of Unrelated Subjects with an Example from the Multiethnic Cohort Study. Human Heredity. https://doi.org/10.1159/000071807
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