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News Article | May 29, 2017
Site: www.prnewswire.com

Sequencing technology is maturing and being optimized for performance, while becoming increasingly affordable. This has opened an era of reliable and foreseeable quality data growth, which demands high computational resources and data storage capabilities to be combined with best in class data interpretation tools. MediSapiens' Explorer™ Platform is now integrated with the Bluebee® platform, offering researchers and clinicians the ability to efficiently curate, analyze, store, interpret and securely share data and findings with colleagues, and use this data efficiently in e.g. personalized medicine initiatives, drug development and cohort or population research. The result is a seamlessly combined workflow, from raw sequencing reads to endpoint analyses. "With the combination of Bluebee's private cloud based robust and scalable platform for high-speed, configurable data analysis and Explorer™ Platform's capabilities in data curation, management and interpretation, scientists and clinicians now have a comprehensive integrated solution that will enhance the development of new diagnostics in the research lab and enable improved therapeutic decisions in a clinical setting", commented Hans Cobben, CEO of Bluebee. "For several years, MediSapiens has developed various data interpretation solutions and digital offerings based on its Explorer™ Platform. Bluebee's unique capabilities in optimized and secure genomics pipelines fully complement MediSapiens' integrated biomedical data solutions. This partnership enables us to offer world-class end-to-end solutions for customers working with NGS and offer convenient and powerful tools for pharmaceutical and diagnostic development as well as translational, biobank, cohort and population research", said Sami Kilpinen, CEO of MediSapiens. MediSapiens is a Bio-IT and bioinformatics company specialized in pharmaceutical research and translational genomics and big biomedical data solutions, providing healthcare and life science with tools that help them curate, manage and interpret large genomic, biomedical and clinical data sets. MediSapiens' Explorer™ Platform enables rapid, secure and tailored development of data curation, management and interpretation solutions. The Explorer™ Platform is used in various integrative and applied analytical solutions, personalized medicine as well as digitization of processes, data flow, result reporting and data sharing. The Bluebee® genomics platform supports cross-functional teams of life science researchers and clinicians by effectively centralizing and managing their genomics data processes and storage needs. Bluebee accelerates genomics insights discovery via the delivery of optimized gold-standard data analysis pipelines, employing both supercomputing and private cloud technologies. This results in a unique high performance cloud-based genomic analysis platform that enables efficient and affordable processing, and insight generation from ever-increasing genomic data.


HELSINKI--(BUSINESS WIRE)--MediSapiens, a leading Finnish developer and provider of genomic and healthcare data solutions, extends is solution delivery network by offering its Explorer™ Platform based genomic, clinical and biomedical data curation, management and analytics solutions in Microsoft’s Azure Cloud. The first stage target customers on Azure hosted solutions are Finnish healthcare facilities and institutions, while the partnership reinforces the global reach for MediSapiens solutions.


Alternative splicing is a widespread process contributing to structural transcript variation and proteome diversity. In cancer, the splicing process is commonly disrupted, resulting in both functional and non-functional end-products. Cancer-specific splicing events are known to contribute to disease progression; however, the dysregulated splicing patterns found on a genome-wide scale have until recently been less well-studied. In this review, we provide an overview of aberrant RNA splicing and its regulation in cancer. We then focus on the executors of the splicing process. Based on a comprehensive catalog of splicing factor encoding genes and analyses of available gene expression and somatic mutation data, we identify cancer-associated patterns of dysregulation. Splicing factor genes are shown to be significantly differentially expressed between cancer and corresponding normal samples, and to have reduced inter-individual expression variation in cancer. Furthermore, we identify enrichment of predicted cancer-critical genes among the splicing factors. In addition to previously described oncogenic splicing factor genes, we propose 24 novel cancer-critical splicing factors predicted from somatic mutations.Oncogene advance online publication, 24 August 2015; doi:10.1038/onc.2015.318. © 2015 Macmillan Publishers Limited


Patent
MediSapiens | Date: 2015-11-04

Techniques for estimating genomic health of a sexually reproducing organism. Stored information on hereditary diseases is used to determine a risk for each disease for allele combinations in a specimen, and to determine a degree of severity, wherein the risk and severity are commensurate. For each hereditary disease a risk is determined for the specimen to have the disease from the from the specimens genotype; a default risk is assigned, if the hereditary disease exhibits Mendelian inheritance and if the specimen is a carrier of the disease. The risk for the hereditary disease is multiplied by an expansive function (e.g., square) of the severity. A statistically representative value of the multiplied risks is calculated, replacing zero values with marginal finite values if the expansive function cannot process zero values.


An aspect of the present invention is a computer executable method for characterizing, e.g. for diagnostic purposes, utilizing a reference database, a query sample tissue based on the gene expression data of the tissue. The method is characterized in that it comprises the steps of calculating an expression match score (EM-score) indicating the likelihood of having the gene expression level observed in the query sample in each of the tissue categories of the reference database, calculating for the genes of the sample tissue, using e.g. the EM-score, tissue specificity score (TS-score), that expresses how uniquely a gene identifies the query sample as belonging to a certain tissue category, calculating, utilizing e.g. the TS-score, overall similarity of the sample tissue in relation to a tissue category of the reference database, and storing at least some resulting characterization data to a memory device or outputting the data to an output device of a computer. An arrangement and a computer program product are also disclosed.


Trademark
MediSapiens | Date: 2014-06-13

Computer software for research and personalized treatment of cancer and other diseases; computer software for the scientific analysis of genetic sequences; software for drug development; software for research on the human genome; computer programs for biotechnological and pharmaceutical applications; software for storage, sharing, analysis and visualization of biological data. Computerized analysis of data; genetic research; biological analysis services.


Trademark
MediSapiens | Date: 2012-03-20

Software for research and personalized treatment of cancer and other diseases; software for research on the human genome; software for drug development. Scientific and technological services, namely, research and design in the field of bioinformatics, genomics and gene expression research and development; Design and development of computer hardware and software; Design and development of computer hardware and software, namely, application service provider hosting services, namely, hosting, managing, developing, analyzing, and maintaining applications, software and websites of others in the fields of genomics and gene expression; Design and development of computer hardware and software, namely, programming and updating of genomics and gene expression databases. Medical services for the diagnosis and treatment of the human body.


Trademark
MediSapiens | Date: 2012-07-24

Software for research and personalized treatment of cancer and other diseases; software for research on the human genome; software for drug development. Scientific and technological services, namely, research and design in the field of bioinformatics, genomics and gene expression research and development; Design and development of computer hardware and software; Design and development of computer hardware and software, namely, application service provider hosting services, namely, hosting, managing, developing, analyzing, and maintaining applications, software and websites of others in the fields of genomics and gene expression; Design and development of computer hardware and software, namely, programming and updating of genomics and gene expression databases. Medical services for the diagnosis and treatment of the human body.


An aspect of the present invention is a computer executable method for characterizing, e.g. for diagnostic purposes, utilizing a reference database, a query sample tissue based on the gene expression data of the tissue. The method is characterized in that it comprises the steps of calculating an expression match score (EM-score) indicating the likelihood of having the gene expression level observed in the query sample in each of the tissue categories of the reference database, calculating for the genes of the sample tissue, using e.g. the EM-score, tissue specificity score (TS-score), that expresses how uniquely a gene identifies the query sample as belonging to a certain tissue category, calculating, utilizing e.g. the TS-score, overall similarity of the sample tissue in relation to a tissue category of the reference database, and storing at least some resulting characterization data to a memory device or outputting the data to an output device of a computer. An arrangement and a computer program product are also disclosed.


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