Baylor Johns Hopkins Center for Mendelian Genetics

确定孟德尔遗传病的基因和变异的生物医学价值是 非常高。这些疾病的临床表现涉及发育和生理 几乎所有器官系统的参数。大约三分之一的公认的孟德尔疾病（如列举的 在OMIM数据库中）在分子水平上仍然无法解释， 被识别、描述和解释。在过去的八年里，贝勒医学院和 约翰霍普金斯大学医学院的人类遗传学项目结合起来，形成了 贝勒-霍普金斯孟德尔基因组学中心（BHCMG）致力于解决这一问题。在这样做时，我们有 利用我们在临床遗传学、基因组学和生物医学领域的专业知识， 技术，遗传分析和了解遗传疾病的生物学基础。我们见过面， 我们将继续迎接挑战，为我们的研究寻找和招募不明原因的患者。 孟德尔疾病，并利用我们的同事和前学员的全球网络。使用状态 在现有技术的基因组方法和分析工具中，我们已经测序了 10，827人，确定了358个新的疾病基因，并有另外> 5，000个样本准备 来自美国和其他40个国家的合作者的序列。这一努力已导致273同行- 来自BHCMG的评论文章。未来，我们将扩大这一合作者网络， 样品为了帮助来自世界各地的同意样本，我们设计了一个在线同意 我们的IRB批准的流程，绕过了时差和国际语言的瓶颈 和远程站点招聘。为了简化和监控我们的进展，我们继续增强PhenoDB， 基于网络的工具，用于收集、存储和分析表型特征和基因型信息。 PhenoDB还跟踪样本，并根据我们的表型专家委员会的审议结果进行更新。 审查和ELSI问题。PhenoDB是完全可搜索的，并采用OMIM进行疾病分类， 基因，以及许多其他资源，使分析。我们已经并将继续建立我们的 现有的高通量测序管道，并开发了综合实验室和分析工作 与来自这两个机构的专家合作，开发新的方法和软件，以推动该领域的发展。促进 数据共享，我们正在汇总外显子组测序数据和表型数据产生在马里兰州和JH在 适合联合分析的数据湖。我们已经并将传播表型和分子 通过出版物、讲座、张贴到社区网站和dbGaP提供信息。我们的基因匹配器 在线工具现在有超过11，000个基因，由超过7，000名研究人员提交，并在超过150篇出版物中引用， 这是世界各地遗传学家参与的媒人交流计划的一部分。我们最近还 在PhenoDB中添加了VariantMatcher功能，所有研究人员都可以访问。

The biomedical value of identifying the genes and variants responsible for Mendelian disorders is extraordinarily high. The clinical manifestations of these disorders involve developmental and physiological parameters of virtually all organ systems. About a third of recognized Mendelian disorders (as enumerated in the OMIM database) remain unexplained at the molecular level and many more of these disorders remain to be recognized, described and explained. Over the last eight years, the Baylor College of Medicine and Johns Hopkins University School of Medicine human genetics programs have combined and formed the Baylor-Hopkins Center for Mendelian Genomics (BHCMG) to address this problem. In doing so, we have taken advantage of the synergies afforded by combining our expertise in clinical genetics, genomic technologies, genetic analysis and understanding the biological basis of genetic disease. We have met and will continue to meet the challenge of finding and recruiting for our research patients with unexplained Mendelian disorders and by utilizing our worldwide network of colleagues and former trainees. Using state of the art genomic methods and analytic tools, we have already sequenced the exome or the genome of 10,827 individuals, identifying 358 novel disease genes, and have another > 5,000 samples ready to sequence from collaborators in the USA and 40 other countries. This effort has resulted in 273 peer- reviewed papers from BHCMG. In the future, we will expand this network of collaborators to identify more samples. To assist in consenting samples from around the world, we have designed an online consenting process approved by our IRB that bypasses the bottlenecks of time difference and language in international and remote site recruiting. To streamline and monitor our progress we continue to enhance PhenoDB, a web-based tool for the collection, storage and analysis of phenotypic features and genotype information. PhenoDB also tracks samples, and is updated with the deliberations of our expert committees for Phenotype Review and ELSI issues. PhenoDB is fully searchable and incorporates OMIM for disease classification and genes, as well as many other resources to enable analysis. We have and will continue to build on our existing high throughput sequencing pipelines and have developed integrated laboratory and analysis efforts with experts from both institutions to develop new methods and software to advance the field. To promote data sharing, we are aggregating exome sequencing data and phenotypic data produced at BCM and at JH in a data lake suitable for joint analysis. We have and will disseminate the phenotype and molecular information through publication, lectures, posting to communal websites and dbGaP. Our GeneMatcher online tool now has > 11,000 genes submitted by >7,000 investigators and cited in > 150 publications and is part of the MatchMaker Exchange initiative involving geneticists around the world. We have also recently added a VariantMatcher functionality to PhenoDB that is accessible to all investigators.