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Tumor somatic mutations also existing as germline polymorphisms may help to identify functional SNPs from genome-wide association studies

We hypothesized that a joint analysis of cancer risk-associated single-nucleotide polymorphism (SNP) and somatic mutations in tumor samples can predict functional and potentially causal SNPs from GWASs. We used mutations reported in the Catalog of Somatic Mutations in Cancer (COSMIC). Confirmed soma...

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Detalhes bibliográficos
Publicado no:Carcinogenesis
Principais autores: Gorlov, Ivan P, Xia, Xiangjun, Tsavachidis, Spiridon, Gorlova, Olga Y, Amos, Christopher I
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7566444/
https://ncbi.nlm.nih.gov/pubmed/32681635
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/carcin/bgaa077
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