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UnknownDe Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Not available
S-EPMC7273536 | biostudies-literature
UnknownDe novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.
Not available
S-EPMC7007577 | biostudies-literature
UnknownDonor-specific HLA antibody-mediated complement activation is a significant indicator of antibody-mediated rejection and poor long-term graft outcome during lung transplantation: a single center cohort study.
Not available
S-EPMC5995657 | biostudies-literature
UnknownParadoxically Greater Persistence of HIV RNA-Positive Cells in Lymphoid Tissue When ART Is Initiated in the Earliest Stage of Infection.
Not available
S-EPMC9200151 | biostudies-literature
UnknownGenetic correlates of phenotypic heterogeneity in autism.
Not available
S-EPMC9470531 | biostudies-literature
GenomicsWhole Genome Sequencing of a Triple Negative Breast Cancer Patient: Matched Primary Tumor, Normal, Metastasis and Xenograft samples

Breast Cancer Subject Participant ID 700064 (Source Sample names: 6888 and 206). We used massively parallel DNA sequencing technologies to screen entire genomes, in an unbiased manner, for genetic changes associated with tumor growth and metastasis. We describe the complete genome sequence ...

phs000245.v1.p1 | EGA
UnknownPhase II Study of BEZ235 versus Everolimus in Patients with Mammalian Target of Rapamycin Inhibitor-Naive Advanced Pancreatic Neuroendocrine Tumors.
Not available
S-EPMC6058330 | biostudies-literature
GenomicsChIP-seq for EP300 and H3K4me1 in the mouse melanocyte cell line melan-a
Using ChIP-seq for p300 and H3K4me1, we identified 2,489 putative melanocyte enhancer loci in the mouse genome. We demonstrated that these putative enhancers are evolutionarily constrained, enriched for sequence motifs predicted to bind key melanocyte transcription factors, located near genes releva...
ORGANISM(S): Mus musculus 
2012-09-14 | E-GEOD-38498 | biostudies-arrayexpress
GenomicOncoArray: Prostate Cancer

Original description of the study: From ELLIPSE (linked to the PRACTICAL consortium), we contributed ~78,000 SNPs to the OncoArray. A large fraction of the content was derived from the GWAS meta-analyses in European ancestry populations (overall and aggressive disease; ~27K SNPs). We also ...

phs001391 | dbGaP
TranscriptomicsTranscription profiling of Laternula elliptica under heat stress
Microarray analysis of gene expression in the Antarctic clam Laternula elliptica after exposure to elevated temperatures
ORGANISM(S): Laternula elliptica 
2010-08-03 | E-MEXP-2336 | biostudies-arrayexpress
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