Crowdfunding Effort Identifies the Causative Mutation in a Patient with Nystagmus,Microcephaly,Dystonia and Hypomyelination  

作　　者：Ofer Isakov Dorit Lev Lubov Blumkin Gershon Celniker Esther Leshinsky-Silver Noam Shomron 

机构地区：[1]Sackler School of Medicine,Tel Aviv University [2]Metabolic-Neurogenetic Clinic,Wolfson Medical Center [3]Institute of Medical Genetics,Wolfson Medical Center [4]Pediatric Neurology Unit,Wolfson Medical Center [5]Molecular Genetic Laboratory,Wolfson Medical Center

出　　处：《Journal of Genetics and Genomics》2015年第2期79-81,共3页遗传学报（英文版）

基　　金：supported in part by a fellowship from the Edmond J.Safra Center for Bioinformatics at Tel-Aviv University

摘　　要：Crowdfunding refers to the online gathering of finance via numerous small donations from individual supporters （the ＂crowd＂） in order to fund a service, project or cause from various fields including business, arts, medicine and science （Sisler, 2012; Cameron et al., 2013; Weigmann, 2013; Wheat et al., 2013）. Crowdfunding platforms facilitate the interaction between organizations soliciting funding for their projects and the people who wish to support them. As prices of molecular testing plummet, utilizing crowdfunding in order to support genetic research becomes increasingly feasible （Cameron et al., 2013）. Whole Exome Sequencing （WES） has been used extensively for the purpose of identifying the genetic cause of rare mendelian diseases, uncovering novel mutations in previously implicated genes or identifying new disease- causing genes （Ng et al., 2009; Bamshad et al., 2011; Gilissen et al., 2011）.Crowdfunding refers to the online gathering of finance via numerous small donations from individual supporters （the ＂crowd＂） in order to fund a service, project or cause from various fields including business, arts, medicine and science （Sisler, 2012; Cameron et al., 2013; Weigmann, 2013; Wheat et al., 2013）. Crowdfunding platforms facilitate the interaction between organizations soliciting funding for their projects and the people who wish to support them. As prices of molecular testing plummet, utilizing crowdfunding in order to support genetic research becomes increasingly feasible （Cameron et al., 2013）. Whole Exome Sequencing （WES） has been used extensively for the purpose of identifying the genetic cause of rare mendelian diseases, uncovering novel mutations in previously implicated genes or identifying new disease- causing genes （Ng et al., 2009; Bamshad et al., 2011; Gilissen et al., 2011）.

分 类 号：R651[医药卫生—外科学]