Tute Genomics

关于Tute Genomics

Tute Genomics是一个提供基于云的基因组分析解决方案，主要用来帮助研究人员解析从人类外显子组直至基因组的序列数据。公司成立于2013年7月，总部在美国。

谷歌在基因数据市场玩真的，整合Tute Genomics基因数据库

谷歌希望凭借人类基因组云端服务Google Genomics在基因组研究市场占有一席之地，如今，公司正忙于用最好的工具来填满这个工具箱。Google Genomics是谷歌2013年推出的一项云端服务，帮助大学实验室和医院等机构将患者或科研对象的生物基因储存到云端上，推进人类基因组信息的存储、对比和分析。

Google Genomics和基因数据创业公司Tute Genomics日前宣布，Tute Genomics将把其海量基因信息数据库放到Google Genomics平台上以便于查询。Google Genomics托管的其他基因数据库还包括1000 Genomes Project、Illumina Platinum Genomes和MSSNG Database for Autism Researchers等。

Google Genomics工程主管、Google+项目前工程主管大卫·格雷泽(David Glazer)曾表示，搜索不是搜索关键字，研究人员可以搜索基因组的特定片段及基因组序列，从而找到具有共同变异的基因组片段。Google Genomics产品经理乔纳森·秉海姆(Jonathan Bingham)表示，为了区分自己不仅仅是一个数据存储平台，Google Genomics还将利用谷歌的搜索工具和计算设施来处理和分析基因数据。用户在Google Genomics上存储数据后，还可以共享给任何想共享的人。此外，Google Genomics还支持基因组数据的处理，包括变异调用、三级结构分析(tertiary analysis)和群组对比等。

Google Genomics除了存储数据，还提供数据分析服务。秉海姆称：“Google Genomics建立在Google Cloud云平台之上，我们需要解决的一个问题是可存储性。此外，还要便于研究人员进行分析，在速度和灵活性方面要有保证。” 秉海姆还称，BigQuery就是Google Cloud平台上的一个云数据分析引擎，之前已被证明对于基因组数据分析大有帮助。BigQuery是谷歌推出的一项Web服务，允许开发者使用谷歌架构运行SQL语句对超级大数据库进行分析，TB级数据十几秒便可返回结果。 “向BigQuery加载数据后，如来自特定父母群体的基因变异数据，用户就可以对一些问题进行查询，如等位基因频率、全基因组关联、与表型性状或药物治疗的关联等，几秒钟便可返回结果。”但BigQuery是针对无结构数据(unstructured data)进行设计的，因此Google Genomics团队还对BigQuery引擎进行了调整，使之适应基因组数据。

秉海姆表示，此次与Tute Genomics合作后，将允许用户通过BigQuery进行更深层的数据挖掘。 “人们已经意识到，Google Genomics和BigQuery的结合允许人们利用基因变异和之前的相关知识做一些十分有意义的事情。如果你之前做过基因测序研究，或者有了新的人类基因组，可以加入到Tute Genomics数据库中，然后咨询一些问题。例如，如果我给患者做了基因测序，如何能知道他们的变异？哪些与疾病的关联度最高？如何知道他们对药物的反应？”这项服务的成本和速度分别是：88 GB的人类基因组变异信息加入到Tute Genomics数据库仅30秒钟，费用不到1美元。

Tute Genomics基因数据库是一个“注释型”数据库，对许多基因变异进行了解读，所使用的标准包括SIFT、PolyPhen2、PhyloP、GERP++、MutationTaster、MutationAssessor、FATHMM、MetaLR和MetaSVM等。同时，Tute Genomics数据库也整合了自身的预测系统，可预测单核苷酸多态性(SNP)或插入缺失标记(InDel)是否与孟德尔表型(Mendelian phenotypes)相关。Tute Genomics数据库还整合了公众数据，如来自1000 Genomes Project和NHLBI ESP-6500等基因组项目的数据。此外，Tute Genomics数据库还包含了来自NCBI的ClinVar数据库的临床注释。Tute Genomics首席科学官(CSO)大卫·米特曼(David Mittelman)称，Tute Genomics基因数据库是其他基因变异数据库的补充。

谷歌与Tute Genomics的合作始于去年。当时，Tute Genomics CEO雷德·罗比逊(Reid Robison)与谷歌Google Genomics工程主管格雷泽在一次会议上相遇，发现两家公司的产品很适于合作。米特曼说：“我们对Google Genomics感到很兴奋，它不仅允许你存储基因数据，还能对其进行分析。在Tute Genomics，我们的工作重心集中在整个注释层面，但基因变异的背后又意味着什么呢？如何与我们当前的已知内容结合起来呢？就是搜索引擎的任务了。”今年2月底，谷歌加入了全球基因组学与健康联盟(Global Alliance for Genomics and Health)，旨在推进基因组和临床数据的安全和有效共享。对于谷歌这种做法，米特曼表示支持。米特曼说：“如果你拥有一个知名品牌，招募了一群优秀的工程师，正在制定一个开放标准，这些就是成功的关键要素。如果想白手起家，从头打造自己的体验，或者与毫无经验的人合作，那意义不大。”米特曼认为，当前的基因组社区仍在探索研究与合作的方向，但他对谷歌正在打造的社区印象深刻。米特曼说：“人们不只是想把数据上传到云端，他们还想进行适当的互动。谷歌的该战略就是测试市场的好方法，看看人们是否愿互动。如果人们能够积极互动，我相信将催生出更多创新。”Google Genomics产品经理秉海姆称，除了Tute Genomics，谷歌还对与其他更多平台合作持开放态度。Tute Genomics首席科学官米特曼说：“我们将继续在Google Cloud平台上为我们的数据库打造一系列新工具和功能。这只是我们合作的开始，未来数月还会进行更深入地整合。”

Tute Genomics获得230万美金A轮融资

医谷编者案：之前医谷报道过《玩真的！谷歌整合Tute Genomics基因数据》，最近这家公司获得了融资。其在由英国泛欧洲发展资本Eurovestech领衔投资A轮融系列融资中获得了230万美元的融资。投资的参与者还有Peak Ventures 和一些未被提及的天使投资人。

TuteGenomics宣布这些资金将为今年种子期融资提供150万美元的资本。种子期投资方包括Wilmington Pharmatech、Salt Lake Life Science Angels、Salt Lake LifeScience Angels以及Park City Angel Network。Tute公司同时也通过融资平台AngelList取得了另外30万美元的注资。TuteCEO里德罗宾逊在一份声明中说：“我们将处在一个基因组测序技术被广泛运用于医疗保障的时代，下一代测序技术将引领该时代的到来，我们将寻求寻求基于这些技术的新方法来诊断、治疗和预防疾病。通过投资者的支持，我们将实现我们在转化医学领域的远大目标。”

Tute与 Advanced BiologicalLaboratories拥有在欧洲、非洲以及亚洲部分Tute业务平台的软件销售市场协议，并且与Lineagen达成协议来分析其对于儿童发展障碍的分子诊断测试结果。今年5月，该公司签约成为全球基因健康联盟成员.

Tute Genomics Acquires Knome

Procurement of highly acclaimed genome interpretation technology from Knome fortifies Tute Genomics’ mission to catalyze precision, genome-guided medicine.

PROVO, Utah, November 2, 2015 – Tute Genomics, the leader in clinical sequencing informatics, today announced the acquisition of key assets of Knome, a renowned human-genome interpretation company whose systems and services helped spearhead several of the greatest commercial advancements in modern human genetics.

Knome was co-founded in 2007 by renowned geneticist and Harvard professor George Church, who recognized a substantial need for genome interpretation technology as the cost of sequencing was rapidly decreasing. The company has received national recognition and become a vanguard in fields such as personal genomics and genome research services. In addition to providing genome sequencing and interpretation to individuals such as Ozzy Osbourne and other high profile early adopters, Knome’s most valuable technology is knoSYS, a best-in-class genome interpretation software platform. Now in its third generation of development, what began as genome analysis software for single human genomes nearly a decade ago, knoSYS has transformed into the most sophisticated genome interpretation and clinical decision support system available. Tute Genomics is integrating Knome’s knoSYS technology with Tute’s cloud-based genome informatics and clinical reporting platform, further bolstering the company’s ability to deliver the most comprehensive, flexible, scalable, and secure informatics solution for genome-guided medicine.

“Knome’s software is a testament to the extraordinary foresight and ingenuity of its scientists and engineers, as well as the remarkable amount of financial support the company has achieved over the years,” stated Reid Robison, MD, MBA, the CEO of Tute Genomics. “The result is a wealth of technology assets that are well-poised to tackle the bioinformatics challenges faced by healthcare, such as rapidly processing raw genome sequencing data, performing clinical interpretation of the data and generating actionable clinical reports. We are tremendously excited and honored to be in a position to offer clinical labs and health systems this pioneering technology integrated within Tute’s cloud-based genome informatics solution.”

Knome’s knoSYS technology brings maximum value to the already robust genome informatics offerings at Tute, used by many of the top laboratories, hospitals, and genomics facilities across the world. The company employs sample-in, report-out technology to enable users to process raw sequencing data, perform rigorous quality control measures, annotate genetic variants with over 200 of the most relevant genetic knowledge sources, and seamlessly create clinical reports. Tute has also been integrated with third party tools such as LIMS for scalable sample information management, and EHR systems to bring genetic insights to point-of-care and help guide every medical decisions throughout a patient’s life.

This groundbreaking transaction furthers Tute’s position as the leader in clinical genome informatics, allowing more health systems and clinical laboratories worldwide access to information that will make prevention, diagnosis, and treatment of disease more accessible than ever.

About Tute Genomics: Tute Genomics provides a cloud-based genome informatics solution to help diagnostic labs and health systems process next-generation sequencing data in a rapid and secure fashion. Tute is powering the world’s genomic knowledge through enterprise informatics, genome interpretation, and clinical insights. Genomics is changing healthcare as we know it, and Tute is shaping the future of medicine: unlocking the genome, personalizing treatment, and powering discovery. Tute is a StartupHealth and Healthbox portfolio company, and has received strategic investments from large institutions such as Intermountain Healthcare. To learn more please visit www.tutegenomics.com and follow us on Twitter @TuteGenomics.

About Knome, Inc.:Knome, Inc. is a leading provider of human genome interpretation systems and services. Knome provides tools and solutions that help researchers, drug developers, and clinicians determine the genetic basis of human disease and drug response. Designed to accelerate and industrialize the process of interpreting whole genomes, Knome’s big data technologies are helping to smooth the healthcare industry’s transition to molecular-based, precision medicine.