Exonic variants undergoing allele-specific selection in cancers
| Autor: | Yuanyuan Zeng, Janet Wang, Liying Yu, Taoling Zhong, Hongkun Fang, Chaoqun Xu, Jintao Guo, Thomas LaFramboise, Qiyuan Li, Matthew L. Freedman |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Population
Single-nucleotide polymorphism QH426-470 Biology Somatic selection medicine.disease_cause Germline Exonic variants Genetics medicine SNP Allelic imbalance Allele education Internal medicine Genetics (clinical) Cancer education.field_of_study Copy number medicine.disease RC31-1245 Allelic Imbalance Carcinogenesis Research Article |
| Zdroj: | BMC Medical Genomics BMC Medical Genomics, Vol 14, Iss 1, Pp 1-11 (2021) |
| ISSN: | 1755-8794 |
| Popis: | 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 healthy population and are significantly enriched for predicted protein-damaging variants. Moreover, genes harboring SNPs that demonstrate allele specificity are enriched for cancer-related biological processes and are more likely to be essential in cancer cells. Conclusions In summary, our study provides a unique and complementary method to identify genes and variants that are relevant to carcinogenesis. |
| Databáze: | OpenAIRE |
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