Article
Exonic variants undergoing allele-specific selection in cancers.
BMC medical genomics - 31 May 2021
Li Qiyuan, Zeng Yuanyuan, Wang Janet, Fang Hongkun, Guo Jintao, Yu Liying, Zhong Taoling, Xu Chaoqun, Freedman Matthew, LaFramboise Thomas
Abstract excerpt
BACKGROUND: Allelic imbalance (AI) in tumors is caused by chromosomal and sub-chromosomal gains and losses. RESULTS: We evaluated AI at 109,086 germline exonic SNP loci in four cancer types, and identified a set of SNPs that demonstrate strong tumor allele specificity in AI events. Further analyses demonstrated that these alleles show consistently different frequencies in the cancer population compared to the...
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