Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes

Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes

Summary: Alternative splicing contributes to cancer development. Indeed, splicing analysis of cancer genome-wide association study (GWAS) risk variants has revealed likely causal variants. To systematically assess GWAS variants for splicing effects, we developed a prioritization workflow using a com...

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Bibliographic Details
Main Authors: Daffodil M. Canson, Tracy A. O’Mara, Amanda B. Spurdle, Dylan M. Glubb
Format: Article
Language:English
Published: Elsevier 2023-04-01
Series:HGG Advances
Subjects:
endometrial cancer
GWAS
splicing
spliceogenic
sQTL
NF1
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247723000179

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http://www.sciencedirect.com/science/article/pii/S2666247723000179

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