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UnknownHigh-density fine-mapping of a chromosome 10q26 linkage peak suggests association between endometriosis and variants close to CYP2C19.
Not available
S-EPMC3125525 | biostudies-literature
UnknownMolecular Modeling and Functional Analysis of Exome Sequencing-Derived Variants of Unknown Significance Identify a Novel, Constitutively Active FGFR2 Mutant in Cholangiocarcinoma.
Not available
S-EPMC6369924 | biostudies-literature
TranscriptomicsA survey of human brain transcriptome diversity at the single cell level
We used single cell RNA sequencing on 466 cells to capture the cellular complexity of the adult and fetal human brain at a whole transcriptome level. Healthy adult temporal lobe tissue was obtained from epileptic patients during temporal lobectomy for medically refractory seizures. We were able to c...
ORGANISM(S): Homo sapiens 
2015-05-20 | E-GEOD-67835 | biostudies-arrayexpress
GenomicsA Genome-Wide Association Study of Lung Cancer Risk

Three genetic loci for lung cancer risk have been identified by genome-wide association studies (GWAS), but inherited susceptibility to specific histologic types of lung cancer is not well established. We conducted a GWAS of lung cancer and its major histologic types genotyping 515,922 single n...

phs000336.v1.p1 | EGA
TranscriptomicsH4K12 acetylation in Human Spermatozoa
H4K12 acetylation mapped by chromatin Chromatin immunoprecipitation (ChIP) in human sperm. ChIP mapping of chromatin modification. Three biological replicates hybridized to each of two chips.
ORGANISM(S): Homo sapiens 
2010-05-18 | E-GEOD-13101 | biostudies-arrayexpress
GenomicsAPCDR AGV Project: WGS of South African Zulu
The African Genome Variation Project (AGVP) provides a resource to help design, implement and interpret genomic studies in sub-Saharan Africa (SSA) and worldwide. The AGVP represents dense genotypes from 1,481 and whole genome sequences (WGS) from 320 individuals across SSA. As part of the AGVP we ...
EGAS00001000286 | EGA
GenomicsEfficacy of JAK/STAT pathway inhibition in murine xenograft models of early T-cell precursor (ETP) acute lymphoblastic leukemia
Early T-cell precursor (ETP) acute lymphoblastic leukemia (ALL) is a recently described subtype of T-ALL characterized by a unique immunophenotype and genomic profile as well as a high rate of induction failure. Frequent mutations in cytokine receptor and JAK/STAT signaling pathways led us to hypoth...
EGAS00001001146 | EGA
GenomicsAPCDR AGV Project: WGS of an Ugandan population
The African Genome Variation Project (AGVP) provides a resource to help design, implement and interpret genomic studies in sub-Saharan Africa (SSA) and worldwide. The AGVP represents dense genotypes from 1,481 and whole genome sequences (WGS) from 320 individuals across SSA. As part of the AGVP we ...
EGAS00001000363 | EGA
GenomicsAPCDR AGV Project: The African Genome Variation Project(dense array genotyping data)
The African Genome Variation Project (AGVP) aims to provide a global resource to understand population diversity and help design, implement and interpret genomic studies in sub-Saharan Africa (SSA), and worldwide. The AGVP represents dense genotyping data on 1,481 individuals from 18 ethno-linguisti...
EGAS00001000959 | EGA
UnknownPilot study of levodopa dose as treatment for residual amblyopia in children aged 8 years to younger than 18 years.
Not available
S-EPMC3137458 | biostudies-literature
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