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GenomicsCorrelated alterations in genome organization, histone methylation, and DNA-lamina interactions in Hutchinson-Gilford progeria syndrome (Hi-C)
Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging disease that is frequently caused by a de novo point mutation at position 1824 in LMNA. This mutation activates a cryptic splice donor site in exon 11, and leads to an in-frame deletion within the prelamin A mRNA and the production of ...
ORGANISM(S): Homo sapiens 
2012-10-30 | E-GEOD-41763 | biostudies-arrayexpress
GenomicsCorrelated alterations in genome organization, histone methylation, and DNA-lamina interactions in Hutchinson-Gilford progeria syndrome (ChIP-seq)
Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging disease that is frequently caused by a de novo point mutation at position 1824 in LMNA. This mutation activates a cryptic splice donor site in exon 11, and leads to an in-frame deletion within the prelamin A mRNA and the production of ...
ORGANISM(S): Homo sapiens 
2012-10-30 | E-GEOD-41757 | biostudies-arrayexpress
TranscriptomicsChromatin stretch enhancer states drive cell-specific gene regulation and harbor human disease risk variants (RNA-seq)
Chromatin-based functional genomic analyses and genomewide association studies (GWASs) together implicate enhancers as critical elements influencing gene expression and risk for common diseases. Here, we performed systematic chromatin and transcriptome profiling in human pancreatic islets. Integrate...
ORGANISM(S): Homo sapiens 
2013-11-08 | E-GEOD-51310 | biostudies-arrayexpress
GenomicsChromatin stretch enhancer states drive cell-specific gene regulation and harbor human disease risk variants (ChIP-seq)
Chromatin-based functional genomic analyses and genomewide association studies (GWASs) together implicate enhancers as critical elements influencing gene expression and risk for common diseases. Here, we performed systematic chromatin and transcriptome pro- filing in human pancreatic islets. Integra...
ORGANISM(S): Homo sapiens 
2013-11-08 | E-GEOD-51311 | biostudies-arrayexpress
Genomics58BC - samples
WTCCC2 samples from 1958 British Birth Cohort
EGAD00010000234 | EGA
GenomicsT2D - samples
WTCCC2 samples from Type 2 Diabetes Cohort
EGAD00010000232 | EGA
GenomicsHT - samples
WTCCC2 samples from Hypertension Cohort
EGAD00010000230 | EGA
GenomicsCAD - samples
WTCCC2 samples from Coronary Artery Disease Cohort
EGAD00010000236 | EGA
GenomicsAssociation studies using the Metabochip array - Samples analysed by the WTCCC (1958 British Birth Cohort (58BC), Hypertension cohort (HT), Type 2 Diabetes Cohort (T2D) and Coronary Artery Disease (CAD) cohort)
Genomewide association studies (GWAS) have proven a powerful hypothesis-free method to identify common disease-associated variants. Even quite large GWAS, however, have only at best identified moderate proportions of the genetic variants contributing to disease heritability. To provide cost-effectiv...
EGAS00000000115 | EGA
Genomicsena-DATASET-GoT2D/T2D-GENES-09-07-2016-02:03:47:226-1135 - samples
The GoT2D study includes ~2800 samples, half T2D cases and half T2D controls, of Northern European ancestry sequenced over 3 three technologies: deep whole exome sequencing, low-pass (4x) whole genome sequencing, and OMNI 2.5M genotyping. Samples were ascertained to be phenotypically "extreme" (e.g....
EGAD00001002247 | EGA
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