| PGG.SV: a whole-genome-sequencing-based structural variant resource and data analysis platform |
| 论文作者 |
Wang, YM; Ling, YC; Gong, J; Zhao, XH; Zhou, HW; Xie, B; Lou, HY; Zhuang, XH; Jin, L; Fan, SH; Zhang, GQ; Xu, SH |
| 期刊/会议名称 |
NUCLEIC ACIDS RESEARCH |
| 论文年度 |
2023 |
| 论文类别 |
Article |
| 摘要 |
Structural variations (SVs) play important roles in human evolution and diseases, but there is a lack of data resources concerning representative samples, especially for East Asians. Taking advantage of both next-generation sequencing and third-generation sequencing data at the whole-genome level, we developed the database PGG.SV to provide a practical platform for both regionally and globally representative structural variants. In its current version, PGG.SV archives 584 277 SVs obtained from whole-genome sequencing data of 6048 samples, including 1030 long-read sequencing genomes representing 177 global populations. PGG.SV provides (i) high-quality SVs with fine-scale and precise genomic locations in both GRCh37 and GRCh38, covering underrepresented SVs in existing sequencing and microarray data; (ii) hierarchical estimation of SV prevalence in geographical populations; (iii) informative annotations of SV-related genes, potential functions and clinical effects; (iv) an analysis platform to facilitate SV-based case-control association studies and (v) various visualization tools for understanding the SV structures in the human genome. Taken together, PGG. SV provides a user-friendly online interface, easy-to-use analysis tools and a detailed presentation of results. PGG. SV is freely accessible via https://www.biosino.org/pggsv. |
| 期 |
D1 |
| 卷 |
51 |
| 影响因子 |
14.9 |
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