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rdf:type |
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lifeskim:mentions |
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pubmed:dateCreated |
2010-2-24
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pubmed:abstractText |
Recent studies have shown that copy number variations (CNVs) are frequent in higher eukaryotes and associated with a substantial portion of inherited and acquired risk for various human diseases. The increasing availability of high-resolution genome surveillance platforms provides opportunity for rapidly assessing research and clinical samples for CNV content, as well as for determining the potential pathogenicity of identified variants. However, few informatics tools for accurate and efficient CNV detection and assessment currently exist.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/20132550-12368253,
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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:issn |
1471-2105
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
11
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
74
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pubmed:dateRevised |
2010-9-28
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pubmed:meshHeading |
pubmed-meshheading:20132550-Algorithms,
pubmed-meshheading:20132550-Comparative Genomic Hybridization,
pubmed-meshheading:20132550-Computational Biology,
pubmed-meshheading:20132550-Databases, Genetic,
pubmed-meshheading:20132550-Gene Dosage,
pubmed-meshheading:20132550-Genetic Variation,
pubmed-meshheading:20132550-Genome, Human,
pubmed-meshheading:20132550-Humans,
pubmed-meshheading:20132550-Oligonucleotide Array Sequence Analysis,
pubmed-meshheading:20132550-Polymorphism, Single Nucleotide
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pubmed:year |
2010
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pubmed:articleTitle |
CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics.
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pubmed:affiliation |
Center for Biomedical Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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