{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T20:00:37Z","timestamp":1759694437801,"version":"3.41.2"},"reference-count":36,"publisher":"Oxford University Press (OUP)","license":[{"start":{"date-parts":[[2019,10,23]],"date-time":"2019-10-23T00:00:00Z","timestamp":1571788800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004921","name":"Shanghai Jiao Tong University","doi-asserted-by":"publisher","award":["YG2016MS33"],"award-info":[{"award-number":["YG2016MS33"]}],"id":[{"id":"10.13039\/501100004921","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key R&D Program of China","doi-asserted-by":"publisher","award":["2016YFC0901904","2016YFC0901604","2017YFC0907505","2017YFC0908405","2017YFC1201200"],"award-info":[{"award-number":["2016YFC0901904","2016YFC0901604","2017YFC0907505","2017YFC0908405","2017YFC1201200"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Zhangjiang Special Project of National Innovation Demonstration Zone","award":["ZJ2018-ZD-013"],"award-info":[{"award-number":["ZJ2018-ZD-013"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>From clinical observations to large-scale sequencing studies, the phenotypic impact of genetic modifiers is evident. To better understand the full spectrum of the genetic contribution to human disease, concerted efforts are needed to construct a useful modifier resource for interpreting the information from sequencing data. Here, we present the PhenoModifier (https:\/\/www.biosino.org\/PhenoModifier), a manually curated database that provides a comprehensive overview of human genetic modifiers. By manually curating over ten thousand published articles, 3078 records of modifier information were entered into the current version of PhenoModifier, related to 288 different disorders, 2126 genetic modifier variants and 843 distinct modifier genes. To help users probe further into the mechanism of their interested modifier genes, we extended the yeast genetic interaction data and yeast quantitative trait loci to the human and we also integrated GWAS data into the PhenoModifier to assist users in evaluating all possible phenotypes associated with a modifier allele. As the first comprehensive resource of human genetic modifiers, PhenoModifier provides a more complete spectrum of genetic factors contributing to human phenotypic variation. The portal has a broad scientific and clinical scope, spanning activities relevant to variant interpretation for research purposes as well as clinical decision making.<\/jats:p>","DOI":"10.1093\/nar\/gkz930","type":"journal-article","created":{"date-parts":[[2019,10,8]],"date-time":"2019-10-08T08:17:03Z","timestamp":1570522623000},"source":"Crossref","is-referenced-by-count":3,"title":["PhenoModifier: a genetic modifier database for elucidating the genetic basis of human phenotypic variation"],"prefix":"10.1093","author":[{"given":"Hong","family":"Sun","sequence":"first","affiliation":[{"name":"Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200062, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yangfan","family":"Guo","sequence":"additional","affiliation":[{"name":"Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200062, China"},{"name":"School of Life Science and Biotechnology, Shanghai Jiao Tong University, Shanghai 200240, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoping","family":"Lan","sequence":"additional","affiliation":[{"name":"Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200062, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jia","family":"Jia","sequence":"additional","affiliation":[{"name":"Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200062, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoshu","family":"Cai","sequence":"additional","affiliation":[{"name":"Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200062, China"},{"name":"Clinical Research Collaboration (K.-Y.H., J.-F.H.), Siemens Ltd., China Shanghai Branch, Shanghai 200120, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guoqing","family":"Zhang","sequence":"additional","affiliation":[{"name":"Bio-Med Big Data Center, Key Laboratory of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Shanghai Institute of Nutrition and Health, Chinese Academy of Sciences, Shanghai 200232, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jingjing","family":"Xie","sequence":"additional","affiliation":[{"name":"Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200062, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qian","family":"Liang","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Chemical Biology, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yixue","family":"Li","sequence":"additional","affiliation":[{"name":"School of Life Science and Biotechnology, Shanghai Jiao Tong University, Shanghai 200240, China"},{"name":"Bio-Med Big Data Center, Key Laboratory of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Shanghai Institute of Nutrition and Health, Chinese Academy of Sciences, Shanghai 200232, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guangjun","family":"Yu","sequence":"additional","affiliation":[{"name":"Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200062, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2019,10,23]]},"reference":[{"key":"2019102305091950800_B1","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1002\/jez.1400280302","article-title":"Specific modifiers of eosin eye color in Drosophila melanogaster","volume":"28","author":"Bridges","year":"1919","journal-title":"Journal of Experimental Zoology"},{"key":"2019102305091950800_B2","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/j.ajhg.2017.06.004","article-title":"From peas to disease: modifier genes, network resilience, and the genetics of health","volume":"101","author":"Riordan","year":"2017","journal-title":"Am. 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