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TranscriptomicsCombinatorial Conflicting Homozygosity (CCH) analysis enables the rapid identification of shared genomic regions in the presence of multiple phenocopies
300,000 SNPs genotyped (Illumina CytoSNP12v2 array) in a family with unexplained inherited kidney disease. Analysed using parametric and Combinatorial Conflicting Homozygosity analysis, as described in Levine et al. BMC Genomics 2015. Abstract: Background: The ability to identify regions of the gen...
ORGANISM(S): Homo sapiens 
2015-01-27 | E-GEOD-65312 | biostudies-arrayexpress
UnknownDefinitive results of a phase III adjuvant trial comparing three chemotherapy regimens in women with operable, node-positive breast cancer: the NSABP B-38 trial.
Not available
S-EPMC3757290 | biostudies-literature
TranscriptomicsIntegrated genomic analysis illustrates the central role of JAK-STAT pathway activation in myeloproliferative neoplasm pathogenesis [HEL cell lines]
We used expression profiling, SNP arrays, and mutational profiling to investigate a well-characterized cohort of MPN patients. MPN patients with homozygous JAK2V617F mutations were characterized by a distinctive transcriptional profile. Notably, a transcriptional signature consistent with activated ...
ORGANISM(S): Homo sapiens 
2014-06-03 | E-GEOD-54645 | biostudies-arrayexpress
TranscriptomicsGenome-wide analysis of monocyte derived macrophages from Crohn's Disease patients and controls
Crohn's disease (CD) is a complex and highly heterogeneous chronic inflammatory disorder, primarily affecting the gastrointestinal tract. Genetic and functional studies have highlighted a key role for innate immunity in its pathogenesis. Profound systemic defects in innate immunity and acute inflamm...
ORGANISM(S): Homo sapiens 
2014-08-06 | E-GEOD-60083 | biostudies-arrayexpress
UnknownClinical predictors of long-term survival in newly diagnosed transplant eligible multiple myeloma - an IMWG Research Project.
Not available
S-EPMC6251924 | biostudies-literature
GenomicsWhole Genome and Exon Capture Sequencing of Bladder Cancers

One primary bladder cancer and paired peripheral blood sample were subjected to whole genome sequencing on an Illumina HiSeq 2000 platform. This technology was utilized to investigate the genetic basis of a durable remission of metastatic bladder cancer in a patient treated with everolimus, a dru...

phs000535.v1.p1 | EGA
TranscriptomicsMucosal transcriptomics implicates under expression of FAM5C in the pathogenesis of ulcerative colitis
Background and aims: Mucosal abnormalities are potentially important in the primary pathogenesis of ulcerative colitis (UC). We investigated the mucosal transcriptomic expression profiles of biopsies from patients with UC and healthy controls (HC), taken from macroscopically non-inflamed tissue fr...
ORGANISM(S): Homo sapiens 
2014-09-05 | E-GEOD-48634 | biostudies-arrayexpress
GenomicsSaccharomyces cerevisiae
Genome-wide Replication-independent H3 Exchange Occurs Predominantly at Promoters and Implicates H3K56ac and Asf1
PRJNA101263 | ENA
UnknownPOLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
Not available
S-EPMC10183370 | biostudies-literature
UnknownQuantitative historical analysis uncovers a single dimension of complexity that structures global variation in human social organization.
Not available
S-EPMC5777031 | biostudies-literature
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