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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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Principais autores: Daffodil M. Canson, Tracy A. O’Mara, Amanda B. Spurdle, Dylan M. Glubb
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2023-04-01
Series:HGG Advances
Assuntos:
endometrial cancer
GWAS
splicing
spliceogenic
sQTL
NF1
Acceso en liña:http://www.sciencedirect.com/science/article/pii/S2666247723000179
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