Literature DB >> 31640808

PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Chao Zhang1,2, Yang Gao1,3, Zhilin Ning1, Yan Lu1, Xiaoxi Zhang1,3, Jiaojiao Liu1,3, Bo Xie1, Zhe Xue1, Xiaoji Wang1, Kai Yuan1, Xueling Ge1, Yuwen Pan1, Chang Liu1, Lei Tian1, Yuchen Wang1, Dongsheng Lu1, Boon-Peng Hoh1,4, Shuhua Xu5,6,7,8.   

Abstract

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.

Entities:  

Keywords:  Disease risk allele; Evolutionary conservation; Human diversity; Indigenous populations; Natural selection; Population genetics and genomics; Population prevalence; Single nucleotide variations; Variant annotation

Year:  2019        PMID: 31640808      PMCID: PMC6805450          DOI: 10.1186/s13059-019-1838-5

Source DB:  PubMed          Journal:  Genome Biol        ISSN: 1474-7596            Impact factor:   13.583


  97 in total

1.  The genome-wide structure of the Jewish people.

Authors:  Doron M Behar; Bayazit Yunusbayev; Mait Metspalu; Ene Metspalu; Saharon Rosset; Jüri Parik; Siiri Rootsi; Gyaneshwer Chaubey; Ildus Kutuev; Guennady Yudkovsky; Elza K Khusnutdinova; Oleg Balanovsky; Ornella Semino; Luisa Pereira; David Comas; David Gurwitz; Batsheva Bonne-Tamir; Tudor Parfitt; Michael F Hammer; Karl Skorecki; Richard Villems
Journal:  Nature       Date:  2010-06-09       Impact factor: 49.962

Review 2.  Settling the score: variant prioritization and Mendelian disease.

Authors:  Karen Eilbeck; Aaron Quinlan; Mark Yandell
Journal:  Nat Rev Genet       Date:  2017-08-14       Impact factor: 53.242

3.  The prehistoric peopling of Southeast Asia.

Authors:  Hugh McColl; Fernando Racimo; Lasse Vinner; Fabrice Demeter; Takashi Gakuhari; J Víctor Moreno-Mayar; George van Driem; Uffe Gram Wilken; Andaine Seguin-Orlando; Constanza de la Fuente Castro; Sally Wasef; Rasmi Shoocongdej; Viengkeo Souksavatdy; Thongsa Sayavongkhamdy; Mohd Mokhtar Saidin; Morten E Allentoft; Takehiro Sato; Anna-Sapfo Malaspinas; Farhang A Aghakhanian; Thorfinn Korneliussen; Ana Prohaska; Ashot Margaryan; Peter de Barros Damgaard; Supannee Kaewsutthi; Patcharee Lertrit; Thi Mai Huong Nguyen; Hsiao-Chun Hung; Thi Minh Tran; Huu Nghia Truong; Giang Hai Nguyen; Shaiful Shahidan; Ketut Wiradnyana; Hiromi Matsumae; Nobuo Shigehara; Minoru Yoneda; Hajime Ishida; Tadayuki Masuyama; Yasuhiro Yamada; Atsushi Tajima; Hiroki Shibata; Atsushi Toyoda; Tsunehiko Hanihara; Shigeki Nakagome; Thibaut Deviese; Anne-Marie Bacon; Philippe Duringer; Jean-Luc Ponche; Laura Shackelford; Elise Patole-Edoumba; Anh Tuan Nguyen; Bérénice Bellina-Pryce; Jean-Christophe Galipaud; Rebecca Kinaston; Hallie Buckley; Christophe Pottier; Simon Rasmussen; Tom Higham; Robert A Foley; Marta Mirazón Lahr; Ludovic Orlando; Martin Sikora; Maude E Phipps; Hiroki Oota; Charles Higham; David M Lambert; Eske Willerslev
Journal:  Science       Date:  2018-07-06       Impact factor: 47.728

4.  Sequencing of 50 human exomes reveals adaptation to high altitude.

Authors:  Xin Yi; Yu Liang; Emilia Huerta-Sanchez; Xin Jin; Zha Xi Ping Cuo; John E Pool; Xun Xu; Hui Jiang; Nicolas Vinckenbosch; Thorfinn Sand Korneliussen; Hancheng Zheng; Tao Liu; Weiming He; Kui Li; Ruibang Luo; Xifang Nie; Honglong Wu; Meiru Zhao; Hongzhi Cao; Jing Zou; Ying Shan; Shuzheng Li; Qi Yang; Peixiang Ni; Geng Tian; Junming Xu; Xiao Liu; Tao Jiang; Renhua Wu; Guangyu Zhou; Meifang Tang; Junjie Qin; Tong Wang; Shuijian Feng; Guohong Li; Jiangbai Luosang; Wei Wang; Fang Chen; Yading Wang; Xiaoguang Zheng; Zhuo Li; Zhuoma Bianba; Ge Yang; Xinping Wang; Shuhui Tang; Guoyi Gao; Yong Chen; Zhen Luo; Lamu Gusang; Zheng Cao; Qinghui Zhang; Weihan Ouyang; Xiaoli Ren; Huiqing Liang; Huisong Zheng; Yebo Huang; Jingxiang Li; Lars Bolund; Karsten Kristiansen; Yingrui Li; Yong Zhang; Xiuqing Zhang; Ruiqiang Li; Songgang Li; Huanming Yang; Rasmus Nielsen; Jun Wang; Jian Wang
Journal:  Science       Date:  2010-07-02       Impact factor: 47.728

Review 5.  Human Disease Variation in the Light of Population Genomics.

Authors:  Ana Prohaska; Fernando Racimo; Andrew J Schork; Martin Sikora; Aaron J Stern; Melissa Ilardo; Morten Erik Allentoft; Lasse Folkersen; Alfonso Buil; J Víctor Moreno-Mayar; Thorfinn Korneliussen; Daniel Geschwind; Andrés Ingason; Thomas Werge; Rasmus Nielsen; Eske Willerslev
Journal:  Cell       Date:  2019-03-21       Impact factor: 41.582

6.  Greenlandic Inuit show genetic signatures of diet and climate adaptation.

Authors:  Matteo Fumagalli; Ida Moltke; Niels Grarup; Fernando Racimo; Peter Bjerregaard; Marit E Jørgensen; Thorfinn S Korneliussen; Pascale Gerbault; Line Skotte; Allan Linneberg; Cramer Christensen; Ivan Brandslund; Torben Jørgensen; Emilia Huerta-Sánchez; Erik B Schmidt; Oluf Pedersen; Torben Hansen; Anders Albrechtsen; Rasmus Nielsen
Journal:  Science       Date:  2015-09-18       Impact factor: 47.728

Review 7.  Insights into Modern Human Prehistory Using Ancient Genomes.

Authors:  Melinda A Yang; Qiaomei Fu
Journal:  Trends Genet       Date:  2018-01-25       Impact factor: 11.639

8.  Ancestral Origins and Genetic History of Tibetan Highlanders.

Authors:  Dongsheng Lu; Haiyi Lou; Kai Yuan; Xiaoji Wang; Yuchen Wang; Chao Zhang; Yan Lu; Xiong Yang; Lian Deng; Ying Zhou; Qidi Feng; Ya Hu; Qiliang Ding; Yajun Yang; Shilin Li; Li Jin; Yaqun Guan; Bing Su; Longli Kang; Shuhua Xu
Journal:  Am J Hum Genet       Date:  2016-08-25       Impact factor: 11.025

9.  Big Data: Astronomical or Genomical?

Authors:  Zachary D Stephens; Skylar Y Lee; Faraz Faghri; Roy H Campbell; Chengxiang Zhai; Miles J Efron; Ravishankar Iyer; Michael C Schatz; Saurabh Sinha; Gene E Robinson
Journal:  PLoS Biol       Date:  2015-07-07       Impact factor: 8.029

10.  The African Genome Variation Project shapes medical genetics in Africa.

Authors:  Deepti Gurdasani; Tommy Carstensen; Fasil Tekola-Ayele; Luca Pagani; Ioanna Tachmazidou; Konstantinos Hatzikotoulas; Savita Karthikeyan; Louise Iles; Martin O Pollard; Ananyo Choudhury; Graham R S Ritchie; Yali Xue; Jennifer Asimit; Rebecca N Nsubuga; Elizabeth H Young; Cristina Pomilla; Katja Kivinen; Kirk Rockett; Anatoli Kamali; Ayo P Doumatey; Gershim Asiki; Janet Seeley; Fatoumatta Sisay-Joof; Muminatou Jallow; Stephen Tollman; Ephrem Mekonnen; Rosemary Ekong; Tamiru Oljira; Neil Bradman; Kalifa Bojang; Michele Ramsay; Adebowale Adeyemo; Endashaw Bekele; Ayesha Motala; Shane A Norris; Fraser Pirie; Pontiano Kaleebu; Dominic Kwiatkowski; Chris Tyler-Smith; Charles Rotimi; Eleftheria Zeggini; Manjinder S Sandhu
Journal:  Nature       Date:  2014-12-03       Impact factor: 49.962

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  10 in total

1.  Database Resources of the National Genomics Data Center in 2020.

Authors: 
Journal:  Nucleic Acids Res       Date:  2020-01-08       Impact factor: 16.971

2.  Genomic diversity and post-admixture adaptation in the Uyghurs.

Authors:  Yuwen Pan; Chao Zhang; Yan Lu; Zhilin Ning; Dongsheng Lu; Yang Gao; Xiaohan Zhao; Yajun Yang; Yaqun Guan; Dolikun Mamatyusupu; Shuhua Xu
Journal:  Natl Sci Rev       Date:  2021-09-11       Impact factor: 17.275

Review 3.  Advances in integrative African genomics.

Authors:  Chao Zhang; Matthew E B Hansen; Sarah A Tishkoff
Journal:  Trends Genet       Date:  2021-11-02       Impact factor: 11.639

4.  Association of Hypoxia-Inducible Factor 1α Gene Polymorphisms With Breast Cancer Susceptibility: A Meta-Analysis.

Authors:  Md Shihabul Islam
Journal:  JCO Glob Oncol       Date:  2022-03

5.  Exome sequencing identifies rare mutations of LDLR and QTRT1 conferring risk for early-onset coronary artery disease in Chinese.

Authors:  Kang Yao; Yuxiang Dai; Juan Shen; Yi Wang; Huanjie Yang; Runda Wu; Qijun Liao; Hongyi Wu; Xiaodong Fang; Shalaimaiti Shali; Lili Xu; Meng Hao; Chenhao Lin; Zhonghan Sun; Yilian Liu; Mengxin Li; Zhen Wang; Qiang Gao; Shuning Zhang; Chenguang Li; Wei Gao; Lei Ge; Yunzeng Zou; Aijun Sun; Juying Qian; Li Jin; Shangyu Hong; Yan Zheng; Junbo Ge
Journal:  Natl Sci Rev       Date:  2022-05-31       Impact factor: 23.178

6.  Lineage-specific positive selection on ACE2 contributes to the genetic susceptibility of COVID-19.

Authors:  Yuwen Pan; Panhong Liu; Fang Wang; Peng Wu; Fanjun Cheng; Xin Jin; Shuhua Xu
Journal:  Natl Sci Rev       Date:  2022-07-01       Impact factor: 23.178

7.  Genomic data integration and user-defined sample-set extraction for population variant analysis.

Authors:  Tommaso Alfonsi; Anna Bernasconi; Arif Canakoglu; Marco Masseroli
Journal:  BMC Bioinformatics       Date:  2022-09-29       Impact factor: 3.307

8.  Most frequent South Asian haplotypes of ACE2 share identity by descent with East Eurasian populations.

Authors:  Anshika Srivastava; Rudra Kumar Pandey; Prajjval Pratap Singh; Pramod Kumar; Avinash Arvind Rasalkar; Rakesh Tamang; George van Driem; Pankaj Shrivastava; Gyaneshwer Chaubey
Journal:  PLoS One       Date:  2020-09-16       Impact factor: 3.240

9.  False Alarms in Consumer Genomics Add to Public Fear and Potential Health Care Burden.

Authors:  Xiaoming Liu; Deborah Cragun; Jinyong Pang; Swamy R Adapa; Renee Fonseca; Rays H Y Jiang
Journal:  J Pers Med       Date:  2020-10-23

10.  Indigenous Genomic Databases: Pragmatic Considerations and Cultural Contexts.

Authors:  Nadine Rena Caron; Meck Chongo; Maui Hudson; Laura Arbour; Wyeth W Wasserman; Stephen Robertson; Solenne Correard; Phillip Wilcox
Journal:  Front Public Health       Date:  2020-04-24
  10 in total

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