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- W4230875199 abstract "Copy number variants (CNVs) are variants within the genome that arise from either duplication or deletion of a subset of an organism's genome. Within the human genome CNVs are now considered much more extensive than single nucleotide polymorphisms (SNPs) and are formed via a number of genomic mechanisms. Changes in CNVs influence phenotypes across a variety of organisms in both positive and detrimental ways, often via dosage effects of gene products. CNVs can be characterized using cytogenetic approaches, including karyotyping, fluorescence in situ hybridization (FISH), and now microarray and next‐generation sequencing techniques. A particularly important CNV in primates was selected for during dietary shifts in hominin evolution that coincided with increased starchy diets, resulting in selection of additional copies of AMY1 in humans compared to extant ape species. CNVs have also been implicated in contributing to many diseases, including autism, schizophrenia, Parkinson's disease, and Alzheimer's disease." @default.
- W4230875199 created "2022-05-11" @default.
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- W4230875199 date "2018-10-04" @default.
- W4230875199 modified "2023-10-16" @default.
- W4230875199 title "Copy number variants (CNV)" @default.
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- W4230875199 doi "https://doi.org/10.1002/9781118584538.ieba0106" @default.
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