Linked Life Data

12610532

Source:http://linkedlifedata.com/resource/pubmed/id/12610532

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2003-2-28
pubmed:abstractText
The past two decades have witnessed an explosion in the identification, largely by positional cloning, of genes associated with mendelian diseases. The roughly 1,200 genes that have been characterized have clarified our understanding of the molecular basis of human genetic disease. The principles derived from these successes should be applied now to strategies aimed at finding the considerably more elusive genes that underlie complex disease phenotypes. The distribution of types of mutation in mendelian disease genes argues for serious consideration of the early application of a genomic-scale sequence-based approach to association studies and against complete reliance on a positional cloning approach based on a map of anonymous single nucleotide polymorphism haplotypes.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
1061-4036
pubmed:author
pubmed:issnType
Print
pubmed:volume
33 Suppl
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
228-37
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease.
pubmed:affiliation
Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA. Botstein@genome.Stanford.edu
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Review, Historical Article