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| Status |
Public on Jan 21, 2011 |
| Title |
Genome-wide assessment of imprinted expression in human cells |
| Organism |
Homo sapiens |
| Experiment type |
SNP genotyping by SNP array
Genome variation profiling by SNP array
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| Summary |
Parent-of-origin dependent expression of alleles, imprinting, has been suggested to impact a substantial proportion of mammalian genes. Its discovery requires allele-specific detection of expressed transcripts, but in some cases detected allelic expression (AE) bias has been interpreted as imprinting without demonstrating compatible transmission patterns and excluding heritable variation. Therefore, we utilized a genome-wide tool exploiting high density genotyping arrays in parallel measurements of genotypes in RNA and DNA to determine AE across the transcriptome in lymphoblastoid cell lines (LCLs) and skin fibroblasts derived from families.
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| Overall design |
To investigate imprinting, transmission patterns were analyzed in 2 LCL trios, 1 LCL 3-generation pedigree and 9 FB trios. To investigate random monoallelic expression, 2 cell lines were treated with three concentrations of 5-azadeoxycytidine (AZA), and one cell line was treated for two time periods.
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| Contributor(s) |
Morcos L, Ge B, Koka V, Lam KC, Pokholok DK, Gunderson KL, Montpetit A, Verlaan DJ, Pastinen T |
| Citation(s) |
21418647, 24176135 |
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| Submission date |
Dec 22, 2010 |
| Last update date |
Jul 29, 2019 |
| Contact name |
Tomi Markku Pastinen |
| E-mail(s) |
Tomi.Pastinen@mcgill.ca
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| Organization name |
McGill University and Génome Québec Innovation Centre
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| Street address |
740, Dr. Penfield Avenue
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| City |
Montreal |
| State/province |
Quebec |
| ZIP/Postal code |
H3A 1A4 |
| Country |
Canada |
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| Platforms (2) |
| GPL6983 |
Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) |
| GPL6984 |
Illumina Human1M-Duov3 DNA Analysis BeadChip (Human1M-Duov3_B) |
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| Samples (112)
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| Relations |
| BioProject |
PRJNA135163 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE26286_RAW.tar |
228.8 Mb |
(http)(custom) |
TAR |
| GSE26286_raw_signal.tar.gz |
1.7 Gb |
(ftp)(http) |
TAR |
| Processed data included within Sample table |
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