New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene.
New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene.
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DOI：
10.1002/humu.22769
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发表时间：
2015-04
期刊：
影响因子：
3.9
通讯作者：
Hamosh A
中科院分区：
文献类型：
--
作者：
Sobreira N;Schiettecatte F;Boehm C;Valle D;Hamosh A
从全外显子组测序或全基因组测序鉴定的数千种致病变异中鉴定致病变异是一项艰巨的挑战。为了使该过程尽可能有效和灵活，我们开发了与我们先前描述的基于Web的表型摄入工具PhenoDB（http：//www.example.com和http://phenodb.org）耦合的变体分析模块。researchphenodb.net当在对特定患者或家族的研究中确定了少量候选致病变异时，第二个更困难的挑战就变成了证明任何给定变异的因果关系。解决这一问题的一种方法是寻找具有相似表型和相同候选基因突变的其他病例。或者，也有可能为因果关系提供生物学证据，这种方法通过与研究感兴趣基因的基础科学家建立联系而得到帮助，通常是在模式生物的背景下。这两种策略都受益于一个开放获取的在线网站，在这个网站上，个别临床医生和研究人员可以发布感兴趣的基因。为此，我们开发了GeneMatcher（genematcher.org），这是一个可免费访问的网站，使世界各地对相同基因感兴趣的临床医生和研究人员之间能够建立联系。
Identifying the causative variant from among the thousands identified by whole-exome sequencing or whole-genome sequencing is a formidable challenge. To make this process as efficient and flexible as possible, we have developed a Variant Analysis Module coupled to our previously described Web-based phenotype intake tool, PhenoDB (http://researchphenodb.net and http://phenodb.org). When a small number of candidate-causative variants have been identified in a study of a particular patient or family, a second, more difficult challenge becomes proof of causality for any given variant. One approach to this problem is to find other cases with a similar phenotype and mutations in the same candidate gene. Alternatively, it may be possible to develop biological evidence for causality, an approach that is assisted by making connections to basic scientists studying the gene of interest, often in the setting of a model organism. Both of these strategies benefit from an open access, online site where individual clinicians and investigators could post genes of interest. To this end, we developed GeneMatcher (http://genematcher.org), a freely accessible Website that enables connections between clinicians and researchers across the world who share an interest in the same gene(s).