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• W3003203669 startingPage "141" @default.
• W3003203669 abstract "Gene duplication is a major mechanism for the evolution of gene novelty, and copy-number variation makes a major contribution to inter-individual genetic diversity. However, most approaches for studying copy-number variation rely upon uniquely mapping reads to a genome reference and are unable to distinguish among duplicated sequences. Specialized approaches to interrogate specific paralogs are comparatively slow and have a high degree of computational complexity, limiting their effective application to emerging population-scale data sets. We present QuicK-mer2, a self-contained, mapping-free approach that enables the rapid construction of paralog-specific copy-number maps from short-read sequence data. This approach is based on the tabulation of unique k-mer sequences from short-read data sets, and is able to analyze a 20X coverage human genome in approximately 20 min. We applied our approach to newly released sequence data from the 1000 Genomes Project, constructed paralog-specific copy-number maps from 2457 unrelated individuals, and uncovered copy-number variation of paralogous genes. We identify nine genes where none of the analyzed samples have a copy number of two, 92 genes where the majority of samples have a copy number other than two, and describe rare copy number variation effecting multiple genes at the APOBEC3 locus." @default.
• W3003203669 created "2020-02-07" @default.
• W3003203669 creator A5050835243 @default.
• W3003203669 creator A5087033178 @default.
• W3003203669 date "2020-01-29" @default.
• W3003203669 modified "2023-10-17" @default.
• W3003203669 title "Rapid, Paralog-Sensitive CNV Analysis of 2457 Human Genomes Using QuicK-mer2" @default.
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• W3003203669 doi "https://doi.org/10.3390/genes11020141" @default.
• W3003203669 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7073954" @default.
• W3003203669 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32013076" @default.
• W3003203669 hasPublicationYear "2020" @default.
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