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Characterizing mobile element insertions in 5675 genomes.

Nucleic acids research - 21 Mar 2022

Niu Yiwei, Teng Xueyi, Zhou Honghong, Shi Yirong, Li Yanyan, Tang Yiheng, Zhang Peng, Luo Huaxia, Kang Quan, Xu Tao, He Shunmin

Abstract excerpt

Mobile element insertions (MEIs) are a major class of structural variants (SVs) and have been linked to many human genetic disorders, including hemophilia, neurofibromatosis, and various cancers. However, human MEI resources from large-scale genome sequencing are still lacking compared to those for SNPs and SVs. Here, we report a comprehensive map of 36 699 non-reference MEIs constructed from 5675 genomes,...

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PMID: 35212372
DOI: 10.1093/nar/gkac128
PMCID: PMC8934628

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