Additional file 2 of Characterization of large-scale genomic differences in the first complete human genome
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Additional file 2: Table S1. The large-scale SVs discovered by whole-genome alignment (PAV). Table S2. The large-scale SVs discovered by graph-based (minigraph). Table S3. The large-scale SVs discovered by read-mapping (PBSV). Table S4. The 238 validated large SVs. Table S5. The summary table of the disease-related or gene-related discrepant regions. Table S6. The gene differences between the two human reference genomes in 155 validated insertion and deletion large SVs. Table S7. Genotyping insertions and deletions on HPRC and HGSVC assemblies. Table S8. The GO enrichment of the genes in the 27 disease-related discrepant regions. Table S9. The three KLRC haplotypes identified from the 94 long-read genome assemblies. Table S10. The frequency of KLRC haplotype in the 94 long-read assemblies and in the inferred 1KG dataset. Table S11.The frequency of KLRC-haps in the different populations. Table S12.The frequency of the six SNVs in GnomAD and 1KG database. Table S13. The likelihood of the branch/branch-site models in PAML. Table S14. Copy number difference of protein-coding and SV-affected genes between human and non-human primates. Table S15. GC content of KLRC2&3 in different species. Table S16. The selection test on small sample size model.
提供机构:
McCoy, Rajiv C.; Yang, Xiangyu; Wang, Xuankai; Meng, Dan; Lu, Qing; Harvey, William T.; Vollger, Mitchell R.; Chen, Nae-Chyun; Li, Weidong; Zhang, Shilong; Eichler, Evan E.; Xia, Manying; Mao, Yafei; Taylor, Dylan J.; Shi, Junfeng; Logsdon, Glennis A.; Fu, Lianting; Schatz, Michael C.; Zou, Yawen
创建时间:
2023-07-05



