Linked Life Data

12900503

Source:http://linkedlifedata.com/resource/pubmed/id/12900503

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
17
pubmed:dateCreated
2003-8-20
pubmed:abstractText
The high frequency of single-nucleotide polymorphisms (SNPs) in the human genome presents an unparalleled opportunity to track down the genetic basis of common diseases. At the same time, the sheer number of SNPs also makes unfeasible genome-wide disease association studies. The haplotypic nature of the human genome, however, lends itself to the selection of a parsimonious set of SNPs, called haplotype tagging SNPs (htSNPs), able to distinguish the haplotypic variations in a population. Current approaches rely on statistical analysis of transmission rates to identify htSNPs. In contrast to these approximate methods, this contribution describes an exact, analytical, and lossless method, called BEST (Best Enumeration of SNP Tags), able to identify the minimum set of SNPs tagging an arbitrary set of haplotypes from either pedigree or independent samples. Our results confirm that a small proportion of SNPs is sufficient to capture the haplotypic variations in a population and that this proportion decreases exponentially as the haplotype length increases. We used BEST to tag the haplotypes of 105 genes in an African-American and a European-American sample. An interesting finding of this analysis is that the vast majority (95%) of the htSNPs in the European-American sample is a subset of the htSNPs of the African-American sample. This result seems to provide further evidence that a severe bottleneck occurred during the founding of Europe and the conjectured "Out of Africa" event.
pubmed:grant
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/12900503-10888845, http://linkedlifedata.com/resource/pubmed/commentcorrection/12900503-11130070, http://linkedlifedata.com/resource/pubmed/commentcorrection/12900503-11254454, http://linkedlifedata.com/resource/pubmed/commentcorrection/12900503-11279528, http://linkedlifedata.com/resource/pubmed/commentcorrection/12900503-11346797, http://linkedlifedata.com/resource/pubmed/commentcorrection/12900503-11586304, http://linkedlifedata.com/resource/pubmed/commentcorrection/12900503-11586305, http://linkedlifedata.com/resource/pubmed/commentcorrection/12900503-11586306, http://linkedlifedata.com/resource/pubmed/commentcorrection/12900503-11721056, http://linkedlifedata.com/resource/pubmed/commentcorrection/12900503-11741196, http://linkedlifedata.com/resource/pubmed/commentcorrection/12900503-12029063, http://linkedlifedata.com/resource/pubmed/commentcorrection/12900503-8928008, http://linkedlifedata.com/resource/pubmed/commentcorrection/12900503-9411782, http://linkedlifedata.com/resource/pubmed/commentcorrection/12900503-9653150
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0027-8424
pubmed:author
pubmed:issnType
Print
pubmed:day
19
pubmed:volume
100
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
9900-5
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Minimal haplotype tagging.
pubmed:affiliation
Department of Biostatistics, Boston University School of Public Health, Boston, MA 02118, USA.
pubmed:publicationType
Journal Article, Comparative Study, Research Support, U.S. Gov't, P.H.S., Research Support, U.S. Gov't, Non-P.H.S., Research Support, Non-U.S. Gov't