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MetabolomicsRare and common genetic determinants of metabolic individuality and their effects on human health (INTERVAL study assays)

Garrod’s concept of “chemical individuality” has contributed to comprehension of the molecular origins of human diseases. Untargeted high-throughput metabolomic technologies provide an in-depth snapshot of human metabolism at scale. We studied the genetic architecture of the human plasma metabolo...

2022-09-09 | MTBLS834 | MetaboLights
TranscriptomicsFine-Scale Mapping and Sequencing of Structural Variation from Eight Human Genomes
Genetic variation amongst individual humans occurs on many different scales, ranging from gross alterations in the human karyotype to single-nucleotide changes. In this manuscript we explore variation on an intermediate scale-particularly insertions, deletions, and inversions affecting from a few t...
ORGANISM(S): Homo sapiens 
2008-05-01 | E-GEOD-10008 | biostudies-arrayexpress
GenomicsGenetics of Cerebral Hemorrhage with Anticoagulation (GOCHA)

This is a prospective, longitudinal cohort study of spontaneous ICH. Subjects were recruited from among consecutive patients ≥ 55 years old who presented with primary hemorrhage to the Massachusetts General Hospital or one of our off-site collaborators from 1999 to 2010. Potential subjects ...

phs000416.v1.p1 | EGA
TranscriptomicsGene expression data from cortex of 9 week old wild type, R6/2, HDAC4het and R6/2::HDAC4het mice
Histone deacetylase (HDAC) 4 is a transcriptional repressor that contains a glutamine rich domain. We hypothesised that it may be involved in the molecular pathogenesis of Huntington's disease (HD), a protein folding neurodegenerative disorder caused by an aggregation-prone polyglutamine expansion a...
ORGANISM(S): Mus musculus 
2014-10-10 | E-GEOD-38218 | biostudies-arrayexpress
TranscriptomicsGene expression data from cortex of 15 week old wild type, R6/2, HDAC4het and R6/2::HDAC4het mice
Histone deacetylase (HDAC) 4 is a transcriptional repressor that contains a glutamine rich domain. We hypothesised that it may be involved in the molecular pathogenesis of Huntington's disease (HD), a protein folding neurodegenerative disorder caused by an aggregation-prone polyglutamine expansion a...
ORGANISM(S): Mus musculus 
2014-10-10 | E-GEOD-38219 | biostudies-arrayexpress
TranscriptomicsMapping the Genetic Architecture of Gene Expression in Human Liver
To uncover the genetic determinants affecting expression in a metabolically active tissue relevant to the study of obesity, diabetes, atherosclerosis, and other common human diseases, we profiled 427 human liver samples on a comprehensive gene expression microarray targeting greater than 40,000 tran...
ORGANISM(S): Homo sapiens 
2008-05-07 | E-GEOD-9588 | biostudies-arrayexpress
UnknownEvidence of escape of SARS-CoV-2 variant B.1.351 from natural and vaccine-induced sera.
Not available
S-EPMC7901269 | biostudies-literature
TranscriptomicsFine-Scale Mapping and Sequencing of Structural Variation from Eight Human Genomes
Genetic variation amongst individual humans occurs on many different scales, ranging from gross alterations in the human karyotype to single-nucleotide changes. In this manuscript we explore variation on an intermediate scale-particularly insertions, deletions, and inversions affecting from a few t...
ORGANISM(S): Homo sapiens 
2008-05-01 | E-GEOD-10037 | biostudies-arrayexpress
UnknownAntibody evasion by the P.1 strain of SARS-CoV-2.
Not available
S-EPMC8008340 | biostudies-literature
GenomicsEpi4K: Gene Discovery in 4,000 Epilepsy Genomes

The Epi4K project began in 2011 as an international, multi-center study that seeks to identify and characterize the genetic bases of complex epilepsies. The Center without Walls Epi4K project includes three cores and four scientific projects, as well as a steering committee comprised of the prima...

phs000653.v1.p1 | EGA
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