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- W2480192169 abstract "This chapter discusses the variants, or the variations, that are found and discovered in personal genome exploration. The chapter explores both the common variants and the rare variants. It asks questions regarding how these variants function and are associated with various phenotypes — or a disease, trait, or drug response. Certain common variants, such as rs1799853 and rs1057910, have been studied and reference in hundreds of research publications. Rare variants, however, are unexplored — presenting a significant challenge in personal genome analysis. The chapter defines what exactly a rare variant is, and how one is categorized as such. Furthermore, the chapter studies what effects these rare variants have on individuals, and which rare variants may functionally contribute to diseases or other phenotypes." @default.
- W2480192169 created "2016-08-23" @default.
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- W2480192169 date "2013-01-03" @default.
- W2480192169 modified "2023-10-18" @default.
- W2480192169 title "Rare and novel variants" @default.
- W2480192169 doi "https://doi.org/10.1093/acprof:oso/9780199644483.003.0010" @default.
- W2480192169 hasPublicationYear "2013" @default.
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