|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:dateCreated |
2011-8-1
|
|
pubmed:abstractText |
Copy number data are routinely being extracted from genome-wide association study chips using a variety of software. We empirically evaluated and compared four freely-available software packages designed for Affymetrix SNP chips to estimate copy number: Affymetrix Power Tools (APT), Aroma.Affymetrix, PennCNV and CRLMM. Our evaluation used 1,418 GENOA samples that were genotyped on the Affymetrix Genome-Wide Human SNP Array 6.0. We compared bias and variance in the locus-level copy number data, the concordance amongst regions of copy number gains/deletions and the false-positive rate amongst deleted segments.
|
|
pubmed:grant |
|
|
pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/21627824-12538238,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21627824-12925520,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21627824-16081473,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21627824-17910767,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21627824-17921354,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21627824-17961237,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21627824-18784189,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21627824-19535535,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21627824-19737800,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21627824-20156996,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21627824-20625178,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21627824-20981092
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:status |
MEDLINE
|
|
pubmed:issn |
1471-2105
|
|
pubmed:author |
|
|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
12
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
220
|
|
pubmed:meshHeading |
pubmed-meshheading:21627824-Algorithms,
pubmed-meshheading:21627824-DNA Copy Number Variations,
pubmed-meshheading:21627824-Gene Dosage,
pubmed-meshheading:21627824-Genome,
pubmed-meshheading:21627824-Genome, Human,
pubmed-meshheading:21627824-Genome-Wide Association Study,
pubmed-meshheading:21627824-Genotype,
pubmed-meshheading:21627824-Humans,
pubmed-meshheading:21627824-Oligonucleotide Array Sequence Analysis,
pubmed-meshheading:21627824-Polymorphism, Single Nucleotide,
pubmed-meshheading:21627824-Software
|
|
pubmed:year |
2011
|
|
pubmed:articleTitle |
Software comparison for evaluating genomic copy number variation for Affymetrix 6.0 SNP array platform.
|
|
pubmed:affiliation |
Division of Biomedical Statistics and Informatics, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. eckel@mayo.edu
|
|
pubmed:publicationType |
Journal Article,
Research Support, N.I.H., Extramural
|
