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Genotyping of human copy-number variation using Agilent 2x105K

ABSTRACT: Copy-number variation (CNV) genotyping was run on 450 HapMap samples using a custom targeted array. The array contained 105 000 oligos targeted to about 10 000 CNVs.

ORGANISM(S): Homo sapiens

SUBMITTER: Jan Aerts

PROVIDER: E-MTAB-142 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Origins and functional impact of copy number variation in the human genome.

Conrad Donald F DF Pinto Dalila D Redon Richard R Feuk Lars L Gokcumen Omer O Zhang Yujun Y Aerts Jan J Andrews T Daniel TD Barnes Chris C Campbell Peter P Fitzgerald Tomas T Hu Min M Ihm Chun Hwa CH Kristiansson Kati K Macarthur Daniel G DG Macdonald Jeffrey R JR Onyiah Ifejinelo I Pang Andy Wing Chun AW Robson Sam S Stirrups Kathy K Valsesia Armand A Walter Klaudia K Wei John J Tyler-Smith Chris C Carter Nigel P NP Lee Charles C Scherer Stephen W SW Hurles Matthew E ME

Nature 20091007 7289

Structural variations of DNA greater than 1 kilobase in size account for most bases that vary among human genomes, but are still relatively under-ascertained. Here we use tiling oligonucleotide microarrays, comprising 42 million probes, to generate a comprehensive map of 11,700 copy number variations (CNVs) greater than 443 base pairs, of which most (8,599) have been validated independently. For 4,978 of these CNVs, we generated reference genotypes from 450 individuals of European, African or Ea ...[more]

PMID: 19812545

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