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rdf:type |
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lifeskim:mentions |
umls-concept:C0012634,
umls-concept:C0017337,
umls-concept:C0017431,
umls-concept:C0030761,
umls-concept:C0220898,
umls-concept:C0231449,
umls-concept:C0752046,
umls-concept:C0936012,
umls-concept:C1283195,
umls-concept:C1510438,
umls-concept:C1517520,
umls-concept:C1522138
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pubmed:issue |
Pt 2
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pubmed:dateCreated |
2008-2-13
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pubmed:abstractText |
We examine the utility of high density genotype assays for predisposition gene localization using extended pedigrees. Results for the distribution of the number and length of genomic segments shared identical by descent among relatives previously derived in the context of genomic mismatch scanning are reviewed in the context of dense single nucleotide polymorphism maps. We use long runs of loci at which cases share a common allele identically by state to localize hypothesized predisposition genes. The distribution of such runs under the hypothesis of no genetic effect is evaluated by simulation. Methods are illustrated by analysis of an extended prostate cancer pedigree previously reported to show significant linkage to chromosome 1p23. Our analysis establishes that runs of simple single locus statistics can be powerful, tractable and robust for finding DNA shared between relatives, and that extended pedigrees offer powerful designs for gene detection based on these statistics.
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pubmed:grant |
http://linkedlifedata.com/resource/pubmed/grant/K07 CA 098364,
http://linkedlifedata.com/resource/pubmed/grant/K07 CA098364-01A1,
http://linkedlifedata.com/resource/pubmed/grant/M01 RR 00064,
http://linkedlifedata.com/resource/pubmed/grant/N01 HG 65403,
http://linkedlifedata.com/resource/pubmed/grant/N01 HG065403,
http://linkedlifedata.com/resource/pubmed/grant/N01 PC 35141,
http://linkedlifedata.com/resource/pubmed/grant/N01 PC035141,
http://linkedlifedata.com/resource/pubmed/grant/R01 CA 102422,
http://linkedlifedata.com/resource/pubmed/grant/R01 CA 89600,
http://linkedlifedata.com/resource/pubmed/grant/R01 CA 90752,
http://linkedlifedata.com/resource/pubmed/grant/R01 CA090752-01,
http://linkedlifedata.com/resource/pubmed/grant/R01 CA102422-01,
http://linkedlifedata.com/resource/pubmed/grant/R01 GM 070710,
http://linkedlifedata.com/resource/pubmed/grant/R01 GM 081417,
http://linkedlifedata.com/resource/pubmed/grant/R01 GM081417-01,
http://linkedlifedata.com/resource/pubmed/grant/R21 GM070710-01A1,
http://linkedlifedata.com/resource/pubmed/grant/U01 CA089600-01A2
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
0003-4800
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
72
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
279-87
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pubmed:dateRevised |
2011-9-26
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pubmed:meshHeading |
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pubmed:year |
2008
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pubmed:articleTitle |
Shared genomic segment analysis. Mapping disease predisposition genes in extended pedigrees using SNP genotype assays.
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pubmed:affiliation |
Department of Biomedical Informatics, University of Utah, 391 Chipeta Way, Salt Lake City, UT 84108, USA. alun@genepi.med.utah.edu
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, U.S. Gov't, Non-P.H.S.,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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