PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations
文献类型：期刊论文
| 作者 | Zhang, Chao1,6; Gao, Yang6; Ning, Zhilin6; Lu, Yan6; Zhang, Xiaoxi2,6; Liu, Jiaojiao2,6; Xie, Bo6; Xue, Zhe6; Wang, Xiaoji6; Yuan, Kai6 |
| 刊名 | GENOME BIOLOGY
 |
| 出版日期 | 2019 |
| 卷号 | 20期号:1页码:215 |
| ISSN号 | 1474-760X |
| 关键词 | Human diversity Population genetics and genomics Single nucleotide variations Indigenous populations Population prevalence Variant annotation Evolutionary conservation Natural selection Disease risk allele |
| DOI | 10.1186/s13059-019-1838-5 |
| 文献子类 | Article |
| 英文摘要 | Despite the tremendous growth of the DNA sequencing data in the last decade, our understanding of the human genome is still in its infancy. To understand the implications of genetic variants in the light of population genetics and molecular evolution, we developed a database, PGG.SNV (https://www.pggsnv.org), which gives much higher weight to previously under-investigated indigenous populations in Asia. PGG.SNV archives 265 million SNVs across 220,147 present-day genomes and 1018 ancient genomes, including 1009 newly sequenced genomes, representing 977 global populations. Moreover, estimation of population genetic diversity and evolutionary parameters is available in PGG.SNV, a unique feature compared with other databases. |
| 学科主题 | Biochemistry & Molecular Biology ; Biophysics ; Cell Biology |
| WOS关键词 | HIGH-ALTITUDE ADAPTATION ; HUMAN GENETIC DIVERSITY ; GENOME SEQUENCE ; POSITIVE SELECTION ; NATURAL-SELECTION ; REVEALS ADAPTATION ; EXOMES REVEALS ; DNA ELEMENTS ; HAN CHINESE ; VARIANTS |
| 语种 | 英语 |
| CSCD记录号 | CSCD:31640808 |
| 出版者 | BMC |
| WOS记录号 | WOS:000502824300002 |
| 版本 | 出版稿 |
| 源URL | [http://202.127.25.144/handle/331004/816]  |
| 专题 | 中国科学院上海生命科学研究院营养科学研究所 |
| 作者单位 | 1.Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA 19104 USA; 2.ShanghaiTech Univ, Sch Life Sci & Technol, Shanghai 201210, Peoples R China; 3.UCSI Univ, Fac Med & Hlth Sci, Jalan Menara Gading, Kuala Lumpur 56000, Malaysia; 4.Collaborat Innovat Ctr Genet & Dev, Shanghai 200438, Peoples R China, 5.Chinese Acad Sci, Ctr Excellence Anim Evolut & Genet, Kunming 650223, Yunnan, Peoples R China; 6.Univ Chinese Acad Sci, Max Planck Independent Res Grp Populat Genom, CAS MPG Partner Inst Computat Biol PICB, CAS,Shanghai Inst Nutr & Hlth,Shanghai Inst Biol, Shanghai 200031, Peoples R China; |
| 推荐引用方式 GB/T 7714 | Zhang, Chao,Gao, Yang,Ning, Zhilin,et al. PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations[J]. GENOME BIOLOGY,2019,20(1):215. |
| APA | Zhang, Chao.,Gao, Yang.,Ning, Zhilin.,Lu, Yan.,Zhang, Xiaoxi.,...&,.(2019).PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.GENOME BIOLOGY,20(1),215. |
| MLA | Zhang, Chao,et al."PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations".GENOME BIOLOGY 20.1(2019):215. |
入库方式： OAI收割
来源：上海营养与健康研究所
浏览0
下载0
收藏0
其他版本
除非特别说明，本系统中所有内容都受版权保护，并保留所有权利。