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TranscriptomicsNSD3-NUT Fusion Oncoprotein in NUT Midline Carcinoma identified in 1221 patient-derived cell line by RNA-seq
Discarded live tumor tissue from a metastatic focus in the patientM-bM-^@M-^Ys lung was collected under institutional review board approval through the NUT midline carcinoma registry (www.NMCRegistry.org). From this tissue the first known NUT-variant cell line, 1221, was established. To determine th...
ORGANISM(S): Homo sapiens 
2014-08-01 | E-GEOD-57222 | biostudies-arrayexpress
ProteomicsA draft genome sequence of the elusive giant squid, Architeuthis dux
We present a draft genome assembly that includes 200 Gb of Illumina reads, 4 Gb of Moleculo synthetic long-reads and 108 Gb of Chicago libraries, with a final size matching the estimated genome size of 2.7 Gb, and a scaffold N50 of 4.8 Mb. We also present an alternative assembly including 27 Gb raw ...
ORGANISM(S): Architeuthis dux 
2019-12-16 | PXD016522 | Pride
Genome assembly Cephalopod Invertebrate 
TranscriptomicsDNA Methylation Profiling of Melanoma Cell Lines
Epigenetic regulation of tumor suppressor genes (TSGs) has been shown to play a central role in melanomagenesis. Integrating gene expression and methylation array analysis we identified novel candidate TSGs frequently methylated in melanoma. We validated the methylation status of the most promising ...
ORGANISM(S): Homo sapiens 
2011-10-24 | E-GEOD-28356 | biostudies-arrayexpress
UnknownSaving the World's Terrestrial Megafauna.
Not available
S-EPMC5421308 | biostudies-literature
TranscriptomicsA novel recurrent mutation in MITF predisposes to familial and sporadic melanoma
We identified a novel germline mutation of the microphthalmia-associated transcription factor (MITF - E318K). This mutation was found to be present in numerous melanoma families, as well as the general population, where its association with melanoma has a significant effect. We determined the effe...
ORGANISM(S): Homo sapiens 
2011-12-01 | E-GEOD-31269 | biostudies-arrayexpress
GenomicsA novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

We conducted whole-genome sequencing of probands from several melanoma families, identifying one individual carrying a novel germline variant (c.G1075A, NM_000248.3; p.E318K, NP_000239.1; rs149617956) in the melanoma lineage-specific oncogene MITF. While the variant cosegregated with melanoma in ...

phs000419.v1.p1 | EGA
UnknownA cohort study of 30 day mortality after NON-EMERGENCY surgery in a COVID-19 cold site.
Not available
S-EPMC7584883 | 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
UnknownPrognostic model to predict postoperative acute kidney injury in patients undergoing major gastrointestinal surgery based on a national prospective observational cohort study.
Not available
S-EPMC6254006 | biostudies-literature
UnknownImpact of postoperative acute kidney injury in patients undergoing major gastrointestinal surgery on 1-year survival and renal outcomes: a national multicentre cohort study.
Not available
S-EPMC8759520 | biostudies-literature
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