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DNA消化与重定位:连接基因组数据世界

DNAdigest and Repositive: Connecting the World of Genomic Data.

作者信息

Kovalevskaya Nadezda V, Whicher Charlotte, Richardson Timothy D, Smith Craig, Grajciarova Jana, Cardama Xocas, Moreira José, Alexa Adrian, McMurray Amanda A, Nielsen Fiona G G

机构信息

DNAdigest, Future Business Centre, Cambridge, United Kingdom.

Repositive Ltd, Future Business Centre, Cambridge, United Kingdom.

出版信息

PLoS Biol. 2016 Mar 24;14(3):e1002418. doi: 10.1371/journal.pbio.1002418. eCollection 2016 Mar.

Abstract

There is no unified place where genomics researchers can search through all available raw genomic data in a way similar to OMIM for genes or Uniprot for proteins. With the recent increase in the amount of genomic data that is being produced and the ever-growing promises of precision medicine, this is becoming more and more of a problem. DNAdigest is a charity working to promote efficient sharing of human genomic data to improve the outcome of genomic research and diagnostics for the benefit of patients. Repositive, a social enterprise spin-out of DNAdigest, is building an online platform that indexes genomic data stored in repositories and thus enables researchers to search for and access a range of human genomic data sources through a single, easy-to-use interface, free of charge.

摘要

基因组学研究人员没有一个统一的地方,可以像通过在线人类孟德尔遗传数据库(OMIM)查找基因或通过通用蛋白质数据库(Uniprot)查找蛋白质那样,搜索所有可用的原始基因组数据。随着最近基因组数据量的增加以及精准医学前景的不断扩大,这一问题日益凸显。DNAdigest是一家致力于促进人类基因组数据高效共享的慈善机构,旨在改善基因组研究和诊断结果,造福患者。Repositive是从DNAdigest分离出来的一家社会企业,正在构建一个在线平台,该平台对存储在各数据库中的基因组数据进行索引,从而使研究人员能够通过一个简单易用的界面免费搜索和访问一系列人类基因组数据源。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aa88/4807091/a10104c1ebe7/pbio.1002418.g001.jpg

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