Linked Life Data

18974263

Source:http://linkedlifedata.com/resource/pubmed/id/18974263

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
11
pubmed:dateCreated
2008-10-31
pubmed:abstractText
Over the past four years, genome-wide studies have uncovered numerous examples of structural variation in the human genome. This includes structural variation that changes copy number, such as deletion and duplication, and structural variation that does not change copy number, such as orientation and positional polymorphism. One region that contains all these types of variation spans the chromosome band 8p23.1. This region has been studied in some depth, and the focus of this review is to examine our current understanding of the variation of this region. We also consider whether this region is a good model for other structurally variable regions in the genome and what the implications of this variation are for clinical studies. Finally, we discuss the bioinformatics challenges raised, discuss the evolution of the region, and suggest some future priorities for structural variation research.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1088-9051
pubmed:author
pubmed:issnType
Print
pubmed:volume
18
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1686-97
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Defensins and the dynamic genome: what we can learn from structural variation at human chromosome band 8p23.1.
pubmed:affiliation
Department of Genetics, University of Leicester, Leicester LE1 7RH, United Kingdom. ejh33@leicester.ac.uk
pubmed:publicationType
Journal Article, Review