Human
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA647458 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:Homo sapiens CEPH/UTAH PEDIGREE 1463 Genome sequencing project
| PRJNA62295 | ENA
Project description:Homo sapiens CEPH/UTAH Pedigree 1463 genome sequencing project
| PRJNA52009 | ENA
Project description:Homo sapiens CEPH/UTAH Pedigree 1463 amplicon sequencing project
| PRJNA89153 | ENA
Project description:We used microarrays to measure the expression levels of genes in irradiated immortalized B cells, lymphoblastoid cells, from members of Centre d'Etude du Polymorphisme Humain (CEPH) Utah pedigrees. Data were collected for cells at baseline and 2 hours and 6 hours after exposure to 10 Gy of ionizing radiation (IR). We measured the expression levels of genes in irradiated immortalized B cells, lymphoblastoid cells, from members of 30 Centre d'Etude du Polymorphisme Humain (CEPH) Utah pedigrees (CEPH 1331, 1332, 1333, 1341, 1344, 1346, 1347, 1349, 1354, 1356, 1357, 1358, 1362, 1408, 1413, 1416, 1418, 1420, 1421, 1423, 1424, 1444, 1447, 1451, 1454, 1456, 1458, 1463, 1477, 1582). Cells were irradiated at 10 Gy in a 137Cs irradiator. Cells were harvested prior to radiation and at 2 and 6 hours following exposure to IR.
2011-08-03 | E-GEOD-26835 | biostudies-arrayexpress
Project description:Homo sapiens whole genome sequencing of Ceph/Utah Pedigree 1463- NA12878, NA12891, and NA12892 Genome sequencing
| PRJNA323611 | ENA
Project description:Alternative pre-mRNA splicing increases proteomic diversity and provides a potential mechanism underlying both phenotypic diversity and susceptibility to genetic disorders in human populations. To investigate the variation in splicing among humans on a genomewide scale, we use a comprehensive exon-targeted microarray to examine alternative splicing in lymphoblasts derived from the CEPH HapMap population. We show the identification of transcripts containing annotated and novel sequence verified exon skipping, intron retention, and cryptic splice site usage that are specific between individuals. Using family-based linkage analysis, we demonstrate Mendelian inheritance and segregation of specific splice isoforms with regulatory haplotypes for three genes. Allelic association was further used to identify individual SNPs or regulatory haplotype blocks linked to the alternative splicing event, taking advantage of the high-resolution genotype information from the CEPH HapMap population. Keywords: Comparative genomic hybridiation within a 3 generation pedigree We used 14 individuals from the 3 generation CEPH/UTAH 1444 pedigree for our analysis of looking at heritability of differentially spliced exons within the family. 3 biological growths of individuals NA12739, NA12740, NA12750, and NA12751 were used and a single biological growth for the remaining 10 individuals.
2007-08-07 | E-GEOD-7952 | biostudies-arrayexpress
Project description:We have combined high-quality genome sequencing and RNA-sequencing data within a 17-individual, three generation family. Using these data, we have contrasted cis-acting expression, allele-specific expression and splicing quantitative trait loci (collectively termed eQTLs) within the family to eQTLs discovered within a cell-type and ethnicity-matched population sample. We identified that eQTL that exhibit larger effects in the family compared to the population are enriched for rare regulatory and splicing variants and were more likely to influence essential genes. In addition, we identify several large effect-size eQTLs within the family for genes involved in complex disease. Through analysis of eQTLs in a large family we also report the utility of non-coding genome annotation to predicting the effect of rare non-coding variants. We find that a combination of distance to the transcription start site, evolutionary constraint and epigenetic annotation is considerably more informative for predicting the consequence of rare non-coding variants than for common variants. In summary, through transcriptome analyses within a large family we are able to identify the contribution of rare non-coding variants to expression phenotypes and further demonstrate the predictive potential of diverse non-coding genome annotation for interpretation of the impact of rare non-coding variants. RNA-Sequencing of CEPH/UTAH family 1463
2014-09-01 | E-GEOD-56961 | biostudies-arrayexpress
Project description:We used microarrays to examine gene expression levels from 131 unrelated CEPH-Utah grandparents with either DMSO or tunicamycin.
2013-03-28 | GSE36911 | GEO
Project description:We used microarrays to examine gene expression levels from members of 45 CEPH-Utah pedigrees. Keywords: array-based gene expression
2010-09-21 | GSE16778 | GEO
Project description:We used microarrays to examine gene expression levels from 131 unrelated CEPH-Utah grandparents with either DMSO or tunicamycin. We measured gene expression levels in immortalized B cells from 131 unrelated CEPH-Utah grandparents. Each individual was treated for 8 hours with either DMSO or with 4 ug/ml of tunicamycin. Gene expression was measured.
2013-03-28 | E-GEOD-36911 | biostudies-arrayexpress