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| PGG.SV: a whole-genome-sequencing-based structural variant resource and data analysis platform | |
| 2022-10 | |
| Source Publication | NUCLEIC ACIDS RESEARCH
 |
| ISSN | 0305-1048 |
| EISSN | 1362-4962 |
| DOI | 10.1093/nar/gkac905 |
| Abstract | 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. |
| URL | 查看原文 |
| Indexed By | SCIE ; SCOPUS |
| Language | 英语 |
| WOS Research Area | Biochemistry & Molecular Biology |
| WOS Subject | Biochemistry & Molecular Biology |
| WOS ID | WOS:000868391900001 |
| Publisher | OXFORD UNIV PRESS |
| Original Document Type | Article; Early Access |
| Citation statistics | |
| Document Type | 期刊论文 |
| Identifier | https://kms.shanghaitech.edu.cn/handle/2MSLDSTB/243242 |
| Collection | 生命科学与技术学院_特聘教授组_徐书华组 |
| Corresponding Author | Fan, Shaohua; Zhang, Guoqing; Xu, Shuhua |
| Affiliation | 1.Chinese Acad Sci, Univ Chinese Acad Sci, Natl Genom Data Ctr, Shanghai Inst Nutr & Hlth,Key Lab Computat Biol, Shanghai 200031, Peoples R China; 2.Chinese Acad Sci, Univ Chinese Acad Sci, Biomed Big Data Ctr, Shanghai 200031, Peoples R China; 3.Fudan Univ, Ctr Evolutionary Biol, Collaborat Innovat Ctr Genet & Dev, Sch Life Sci,State Key Lab Genet Engn, Shanghai 200438, Peoples R China; 4.Fudan Univ, Human Phenome Inst, Zhangjiang Fudan Int Innovat Ctr, Shanghai 201203, Peoples R China; 5.Fudan Univ, Minist Educ, Key Lab Contemporary Anthropol, Shanghai 201203, Peoples R China; 6.Fudan Univ, Zhongshan Hosp, Dept Liver Surg, Shanghai 200032, Peoples R China; 7.Fudan Univ, Zhongshan Hosp, Transplantat Liver Canc Inst, Shanghai 200032, Peoples R China; 8.ShanghaiTech Univ, Sch Life Sci & Technol, Shanghai 201210, Peoples R China; 9.Chinese Acad Sci, Ctr Excellence Anim Evolut & Genet, Kunming 650223, Yunnan, Peoples R China |
| Corresponding Author Affilication | School of Life Science and Technology |
| Recommended Citation GB/T 7714 | Wang, Yimin,Ling, Yunchao,Gong, Jiao,et al. PGG.SV: a whole-genome-sequencing-based structural variant resource and data analysis platform[J]. NUCLEIC ACIDS RESEARCH,2022. |
| APA | Wang, Yimin.,Ling, Yunchao.,Gong, Jiao.,Zhao, Xiaohan.,Zhou, Hanwen.,...&Xu, Shuhua.(2022).PGG.SV: a whole-genome-sequencing-based structural variant resource and data analysis platform.NUCLEIC ACIDS RESEARCH. |
| MLA | Wang, Yimin,et al."PGG.SV: a whole-genome-sequencing-based structural variant resource and data analysis platform".NUCLEIC ACIDS RESEARCH (2022). |
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