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GenomicsData Access Committee
Data Access Committee EGAC00001000186
EGAC00001000186 | EGA
UnknownMechanical thrombectomy failure in anterior circulation strokes: Outcomes and predictors of favorable outcome.
Not available
S-EPMC9541042 | biostudies-literature
GenomicsBTRC Data Access Committee
Data Access Committee EGAC00001000149
EGAC00001000149 | EGA
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
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
Genomicsena-DATASET-BTRC-03-04-2014-18:00:02:250-43 - samples
Whole genome alignments of DIPG patients
EGAD00001000814 | EGA
Genomicsena-DATASET-BTRC-26-04-2017-20:29:35:774-41 - samples
Diffuse Intrinsic Pontine Glioma (DIPG) is a fatal brain cancer that arises in the brainstem of children with no effective treatment. To understand what drives DIPGs we integrated whole-genome-sequencing with methylation, expression and copy-number profiling.
EGAD00001003305 | EGA
GenomicsWhole genome sequencing and whole exome sequencing of DIPG tumors and matched normal tissue
Diffuse Intrinsic Pontine Glioma (DIPG) is a fatal brain cancer that arises in the brainstem of children with no effective treatment. To understand what drives DIPGs we integrated whole-genome-sequencing with methylation, expression and copy-number profiling.
EGAS00001000575 | EGA
GenomicsGenome wide association study for Bladder Cancer Risk

This study funded by the National Cancer Institute (NCI) involves conducting a genome-wide association study of common genetic variants to identify markers of susceptibility to bladder cancer.

This bladder GWAS has led to the discovery of three novel regions in the genome associated with...

phs000346.v1.p1 | EGA
UnknownWorldwide Exploration of Renal Replacement Outcomes Collaborative in Kidney Disease (WE-ROCK).
Not available
S-EPMC10403688 | biostudies-literature
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