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TranscriptomicsTranscriptomic analyses of primary uveal melanomas
SF3B1 is coding an essential splicing factor. This gene was found recurrently mutated in uveal melanoma. To understand the consequences of these hotspot SF3B1 mutations, we performed high coverage RNA-seq on 74 primary uveal melanomas, which were treated by primary enucleation. We analyzed data for...
ORGANISM(S): Homo sapiens 
2016-07-03 | E-MTAB-4097 | biostudies-arrayexpress
TranscriptomicsGenome Alteration Print (GAP): a tool to visualize and mine complex cancer genomic profiles obtained by SNP-arrays
We describe a method for automatic detection of absolute segmental copy numbers and genotype status in complex cancer genome profiles measured by SNP arrays. The method is based on pattern recognition of segmented and smoothed copy number and allelic imbalance profiles. Overall copy number assignmen...
ORGANISM(S): Homo sapiens 
2009-10-29 | E-GEOD-18799 | biostudies-arrayexpress
GenomicsUM_GWAS
Genotype cases using Illumina HumanOmni5
EGAD00010001463 | EGA
GenomicsA GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus.
Uveal melanoma, a rare malignant tumor of the eye, is predominantly observed in populations of European ancestry. A genome-wide association study of 259 uveal melanoma patients compared to 401 controls all of European ancestry revealed a candidate locus at chromosome 5p15.33 (region rs421284: OR = 1...
EGAS00001002334 | EGA
GenomicsData Access Committee for Institut Curie
Data Access Committee EGAC00001000670
EGAC00001000670 | EGA
Genomics8044f1ed-f7ee-42e5-87e3-6506d5746d96 - samples
Uveal melanoma (UM) is the most common primary intraocular malignancy in adults. Despite improvement of diagnosis and treatment of the primary tumor, there is no effective treatment of metastatic disease and approximately half of patients will die within one year or less following metastases detecti...
EGAD00001004554 | EGA
GenomicsComprehensive genetic analysis of uveal melanoma heterogeneity during metastatic progression
Uveal melanoma (UM) is the most common primary intraocular malignancy in adults. Despite improvement of diagnosis and treatment of the primary tumor, there is no effective treatment of metastatic disease and approximately half of patients will die within one year or less following metastases detecti...
EGAS00001002761 | EGA
TranscriptomicsGenetic heterogeneity versus molecular analysis of prion susceptibility in neuroblasma N2a sublines
The neuroblastoma-derived cell line N2a is permissive to certain prion strains but resistant sublines unable to accumulate the pathological proteinase-K resistant form of the prion protein can be isolated. We compared for gene expression and phenotypes different N2a sublines that were susceptible or...
ORGANISM(S): Mus musculus 
2010-06-19 | E-GEOD-5374 | biostudies-arrayexpress
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