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Different Pigmentation Risk Loci for High-Risk Monosomy 3 and Low-Risk Disomy 3 Uveal Melanomas.

Journal of the National Cancer Institute | 2022

Uveal melanoma (UM), a rare malignant tumor of the eye, is predominantly observed in populations of European ancestry. UMs carrying a monosomy 3 (M3) frequently relapse mainly in the liver, whereas UMs with disomy 3 (D3) are associated with more favorable outcome. Here, we explored the UM genetic predisposition factors in a large genome-wide association study (GWAS) of 1142 European UM patients and 882 healthy controls .

Pubmed ID: 34424336 RIS Download

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Associated grants

  • Agency: NCI NIH HHS, United States
    Id: U01 CA155309

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This is a list of tools and resources that we have found mentioned in this publication.


HIrisPlex system (tool)

RRID:SCR_014058

An interactive software tool that predicts hair and eye color based on genetics. The website includes both the IrisPlex system and the HIrisPlex system.

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GenomeStudio (tool)

RRID:SCR_010973

Visualize and analyze data generated by all of Illumina''s platforms.

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Genome Aggregation Database (tool)

RRID:SCR_014964

Database that aggregates exome and genome sequencing data from large-scale sequencing projects. The gnomAD data set contains individuals sequenced using multiple exome capture methods and sequencing chemistries. Raw data from the projects have been reprocessed through the same pipeline, and jointly variant-called to increase consistency across projects.

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