It is found that the abundance of both genetic and mistranslated protein variants mirrors their allele frequencies in the human population, and it is proposed that non-genetic amino acid substitutions in human proteins provide an abundant source to expanding the functional proteome.
This work describes the full spectrum of genetic variation and shows that while 99% of the variants between any two genomes are single base-pair substitutions, 88% of the euchromatic variant base pairs are SVs, including insertions, deletions, duplications, and inversions.
J. Lin, J. Gustafson, J. Wertz et al.· medRxiv· 1 citation
Structural variants (SVs), including variable number tandem repeats (VNTRs), are a major source of human genetic variation, but their impact on the proteome remains poorly characterized. Using a long-read assembly-based reference panel, we imputed 54,578 general SVs and 15,826 VNTRs in 54,306 UK Biobank participants to...
P. Yuan, W. Bai, J. Hou et al.· medRxiv· 0 citations
Multi-nucleotide variants (MNVs) represent a crucial yet underexplored category of genetic variation. Despite previous studies highlighting the prevalence and potential biological impact of MNVs in populations, comprehensive identification and detailed functional annotation of MNVs remain challenging. Here, we develop...
Wei-Wei Jin, Wen Cao, Hao-Hui Luo et al.· Nature Communications· 0 citations
The propensity for accumulating somatic mutations varies along the genome, which critically influences somatic mosaicism, tumor evolution and the potential role of somatic mutations in the context of age-associated diseases. Genomic factors contributing to the variability of mutation rates have been established, includ...
Corinna L. Schmalohr, Yashna Paul, Nina Bundschuh et al.· Genome Biology· 0 citations
The findings conservatively indicate that Smart-Seq may not be good at analyzing molecular diversity and that the results need to be interpreted with caution.
Y. Duan, Jiyao Liu, Shiwen Xu et al.· Nucleic Acids Research· 1 citation
A 29-kb deletion CNV was identified within the Nlrp1b locus of KK mice that contributed to the metabolic syndrome they develop and could uncover some of the missing heritability for mouse models of human diseases and biomedical traits.
Wen-Long Ren, Zu-Feng Cheng, Gary Peltz· bioRxiv· 0 citations
We use cookies to run the site and, with your consent, for analytics and to show ads.
See our Cookie Policy.