Abstract

Current Protocols in Human GeneticsVolume 107, Issue 1 e90 ISSUE INFORMATIONFree Access Issue Information First published: 04 September 2020 https://doi.org/10.1002/cphg.90AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinked InRedditWechat Abstract Cover: In Chu et al. (http://doi.org/10.1002/cphg.102), the image shows different types of TE insertions and TE genotypes. (A-C) Three different types of TE insertions with light yellow boxes indicating the time frames for when each arises. The colored triangles point to the origin of chromosomes carrying insertions. (A) Germline TE insertions are inherited from parents, and thus are present in every cell of the body. (B) De novo TE insertions arise during gametogenesis of the parents or early embryogenesis of the child, and thus are not detected in blood samples of the parents. (C) Somatic insertions occur during development and aging and create genetic mosaicism in an individual. Depending on when and where insertions occur, they are detected in different tissues at different mosaic levels. (D) Every TE insertion in an individual genome has three genotypes: homozygous (1/1), heterozygous (0/1), or no insertion (0/0). A homozygous insertion produces TE-junction-spanning reads originating from two insertion alleles; a heterozygous insertion produces reads from both insertion and reference alleles. Chromosomes carrying a non-reference TE insertion and sequence reads derived from the chromosomes are marked in red. View the latest in Human Genetics RelatedInformation

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