Assessing Autosomal InDel Loci With Multiple Insertions or Deletions of Random DNA Sequences in Human Genome.

Assessing Autosomal InDel Loci With Multiple Insertions or Deletions of Random DNA Sequences in Human Genome.
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评估人类基因组中随机 DNA 序列多次插入或删除的常染色体 InDel 基因座

DOI:
10.3389/fgene.2021.809815
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发表时间:
2021
影响因子:
3.7
通讯作者:
Xie J
Xie J
中科院分区:
生物学3区
文献类型:
--
作者:
Yao Y;Sun K;Yang Q;Zhou Z;Shao C;Qian X;Tang Q;Xie J

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Multiple mutational events of insertion/deletion occurring at or around InDel sites could form multi-allelic InDels and multi-InDels (abbreviated as MM-InDels), while InDels with random DNA sequences could imply a unique mutation event at these loci. In this study, preliminary investigation of MM-InDels with random sequences was conducted using high-throughput phased data from the 1000 Genomes Project. A total of 3,599 multi-allelic InDels and 6,375 multi-InDels were filtered with multiple alleles. A vast majority of the obtained MM-InDels (85.59%) presented 3 alleles, which implies that only one secondary insertion or deletion mutation event occurred at these loci. The more frequent presence of two adjacent InDel loci was observed within 20 bp. MM-InDels with random sequences presented an uneven distribution across the genome and showed a correlation with InDels, SNPs, recombination rate, and GC content. The average allelic frequencies and prevalence of multi-allelic InDels and multi-InDels presented similar distribution patterns in different populations. Altogether, MM-InDels with random sequences can provide useful information for population resolution.
DOI: 10.1093/gbe/evz014
发表时间: 2019-03-01
影响因子: 3.3
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影响因子: 7
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