Cloud IT, Structural Variants, AI for Cancer, More

March 2, 2022

March 2, 2022 | Structural variant detection in FFPE samples, new federated network for genomic variant surveillance, Element Biosciences’ new acquisitions and collaborations, RNA profiling to predict preterm birth, release of multi-modal mental health dataset, AI in genetic variant analysis for cancer and beta-propeller protein-associated neurodegeneration, and more.


Accenture has helped Astellas Pharma Inc. create a cloud-based core IT platform that serves as the foundation for an advanced, data-driven management model for the company’s global operations. The new platform has been rolled out in Japan, the Americas, and EMEA with plans for further deployments. Based on SAP S/4HANA and running on Microsoft Azure, the new platform will consolidate and integrate data from Astellas’ supply chain, human resources, and purchasing and accounting operations into a single view. Previously, this data was spread across countries, locations, and departments. This represents a step forward for Astellas to build an “enterprise digital twin,” which can simulate, predict, and model the dynamic functions of an entire organization to explore potential business opportunities and highlight potential risk factors. The data gathered by the new IT platform and operations services will be combined with digital technologies, such as artificial intelligence, robotic process automation, and analytics, to streamline its enterprise processes. This should help Astellas optimize sales and administrative expenses; accelerate efforts to expand its research capabilities; and foster greater innovation—ultimately enabling the company to generate additional resources for drug discovery. Press release.   Benchling, pioneer of the R&D Cloud powering the biotechnology industry, has acquired Overwatch Research, a Belfast-based startup creating software to accelerate in vivo research. Overwatch’s configurable, end-to-end study management and execution system broadens the capabilities of Benchling’s R&D Cloud, which serves as a single source of truth for biotech R&D. Through this acquisition, Benchling will create the industry’s first comprehensive, cloud-native in vivo solution, completing its Early Development offering and helping customers accelerate the time to bring products to the clinic. Benchling and Overwatch share a vision of digitally transforming R&D. Scientists relying on paper notebooks, spreadsheets, and other manual processes for capturing and analyzing complex experimental data often find it difficult to reproduce results, a fundamental part of the scientific method. In the U.S. alone, the annual economic cost of biomedical research—including in vivo studies—that cannot be replicated was estimated at $10 to $50 billion. Press release.

Dotmatics, an Insightful Science company that provides scientific informatics software to drive the automation of lab data workflows and accelerate critical R&D discovery, announced the release of Dotmatics Platform 22.1. Dotmatics Platform is the common framework that underpins the Company’s web-based scientific applications and allows them to work together to provide users with seamless end-to-end workflows. Dotmatics Platform 22.1 offers advanced features for users, with enhancements to individual applications to further streamline R&D processes and facilitate collaboration, flexibility, and access. This will ultimately lead to quicker and better-informed data-driven research decisions. Key updates include Electronic Lab Notebook (ELN) integration with Microsoft Office for the Web for live editing and compatibility across supporting devices; the extension of Web-based visualization and analytics workspaces to include formulations and animal model data; enhanced reactions and transformations, metadata handling, and structure alignment for improved reaction planning in Dotmatics ELN; assay data management functionality to provide greater flexibility in calculations and statistics and improve user experience and speed; and a new user sign-in experience that provides enhanced security configuration options and increased flexibility for external identity providers and organizational compliance. Press release.

TetraScience announced a new collaboration with PerkinElmer's Informatics business to facilitate faster and better scientific decision-making for customers of PerkinElmer's Signals Research Suite, a leading cloud-based, electronic lab notebook and informatics platform. With the new collaboration, TetraScience will provide PerkinElmer Signals Research Suite customers with vendor-agnostic, configurable, and productized instrument integrations via its Tetra R&D Data Cloud that will enhance data interoperability and reduce time to scientific outcomes. One of the biggest challenges for laboratories performing routine and advanced analysis is integrating multiple instruments, which produce data in unique formats, into seamless and high-performing workflows. By utilizing the Tetra R&D Data Cloud, the heterogeneous data formats will be engineered and harmonized into "Tetra Data", a vendor-neutral data model that will create bidirectional data liquidity between Signals Research Suite and connected laboratory instruments. Press release.

Genomenon announced a partnership with Don’t Forget Morgan, a nonprofit support organization focused on rare disease patients living with Beta-Propeller Protein-Associated Neurodegeneration (BPAN), a progressive disease causing abnormal iron deposits in the brain leading to profound developmental delays. The goal of this collaboration is to provide resources to assist researchers and encourage pharmaceutical companies to invest in finding effective treatments for BPAN, as well as empower patient care teams with actionable genetic information. Contributing to this vision, Genomenon was able to use artificial intelligence (AI) to quickly identify, assemble, and deliver a curated “Genomic Landscape” with 129 unique genetic variants found within WDR45, a gene linked to BPAN. This annotated genomic data provides an extensive overview—as well as profound insights—for all researchers working on the disease. Press release.

KORE Group Holdings has acquired Business Mobility Partners and SIMON IoT, industry-leading mobility solution providers, to expand its services and solutions within the healthcare and life sciences industries. The combined entity will feature a bolstered portfolio of managed IoT services, including industry-leading connectivity offerings coupled with access to world-class pre-configured solutions. Beyond the augmented portfolio of connected health services and solutions, the acquisition also delivers a rich channel program with leading wireless carriers. Press release.

Arima Genomics has launched new solutions for structural variant detection and gene regulation analysis. These solutions enhance the company’s market-leading portfolio of 3D genomics tools that help researchers unlock new insights for disease research. The new Arima-HiC+ FFPE sample preparation kit expands the utility of the Arima-HiC+ workflow to formalin fixed paraffin embedded (FFPE) tissues—a critical archival and clinically relevant sample type. In addition, the new Arima-SV bioinformatics pipeline enables researchers to identify structural variants from their 3D genomic data from a broad range of sample types. By leveraging the Arima-HiC+ FFPE kit and the Arima-SV pipeline, researchers using FFPE tissue samples and short-read sequencing now have a robust workflow to identify structural variants and elucidate connections among the 3D genome, gene function, and disease processes. These tools are relevant across a wide range of translational research areas including cancer, blood and neurological disorders, and immune diseases, where FFPE tissues are a critical archival and clinical sample type. Press release.

H1, which provides the largest global healthcare professional data ecosystem to enable life sciences, academic medical institutions, health systems, and payors, has acquired London-based Faculty Opinions, formerly known as Faculty of 1000 and F1000 Prime. A close partner of H1, Faculty Opinions fuses the comments and opinions of thousands of top researchers in the Life and Medical Sciences to highlight and validate the most exciting and important research in biology and medicine that is emerging today. Users across Life Sciences, Academic Medical Institutions, Research organizations, and more access these insights to drive their respective fields forward. Faculty Opinions helps academic institutions, laboratories, biopharma companies, and researchers stay abreast of the latest developments in science; support funding strategy and policy; identify emerging areas and influential researchers; and discover which research from their institutions is being recommended. H1’s expansive doctor network will now have the ability to discover research findings, develop ideas, and collaborate in the spirit of improving the world of medicine and scientific research. Press release.

Cleveland Clinic announced their Top 10 Medical Innovations for 2022. The list of breakthrough technologies was selected by a committee of Cleveland Clinic subject matter experts, led by D. Geoffrey Vince, Ph.D., executive director of Innovations and chair of Biomedical Engineering at Cleveland Clinic. In order of anticipated importance, the Top 10 Medical Innovations for 2022 are as follows: next generation mRNA vaccinology, PSMA-targeted therapy in prostate cancer, new treatment for the reduction of LDL (Inclisiran), a novel drug for treatment for type 2 diabetes (combo glucose-dependent insulinotropic polypeptide and glucagon-like peptide receptor agonist), a breakthrough treatment for postpartum depression (intravenous neurosteroid), a new targeted medication for hypertrophic cardiomyopathy (cardiac myosin inhibitor), non-hormonal alternatives for menopause (NK3R antagonists), implantables for severe paralysis, AI for early detection of sepsis, and predictive analytics for hypertension.


The Canadian Biomarker Integration Network in Depression (CAN-BIND), one of the Ontario Brain Institute’s six Integrated Discovery Programs, announced the public release of a detailed and multi-modal dataset dealing with mental health. CAN-BIND's foundational study features a deeply phenotyped cohort of 211 people with Major Depressive Disorder (MDD) and 112 healthy individuals across six Canadian clinical sites. Data have been standardized, cleaned, and curated to allow maximum utility for analysis across disease and across platform, and are now available on Brain-CODE, the neuroinformatics platform of the Ontario Brain Institute (OBI). During the CAN-BIND foundational study, participants with MDD received escitalopram, an antidepressant, for eight weeks. After eight weeks, if depressive symptoms did not improve, participants then received escitalopram in combination with aripiprazole, an augmentation treatment often used to treat MDD, for a further eight weeks. Throughout the study, participants were assessed with 29 clinical instruments and questionnaires, structural and functional MRI, resting state and task-based EEG, and genomic and molecular measures. Press release.

DNAstack announced Viral AI, a federated network for genomic variant surveillance and infectious disease research. Viral AI was designed to deliver equitable access to software infrastructure, accelerate international data sharing, and empower scientists and public health officials with globally representative datasets that are needed to mitigate current and future infectious disease outbreaks. Genomic surveillance is required to detect new variants that can threaten the global COVID-19 pandemic response by being more transmissible, pathogenic, evasive of diagnostics, or resistant to therapies. Regional genome sequencing, analysis, and rapid international data sharing are critical to inform public health decisions to help slow the devastating impacts of COVID-19. Viral AI introduces a new way to share and analyze genomics, clinical, administrative, and related data, facilitating insights about transmission, severity, diagnostics, and vaccine escape. As an alternative to the centralized model, where data is uploaded to a single vendor-managed database, Viral AI adopts a federated architecture to connect, analyze, and share data without moving it. This model enables faster, more efficient, regulatory compliant, and regionally sovereign data management, enabling viral surveillance efforts to be more equitable, scalable, and sustainable. Press release.

Element Biosciences, developer of a new and disruptive DNA sequencing platform, announced the completed acquisition of Loop Genomics, a long-read solutions company that enables short-read sequencers to obtain long range information. Loop Genomics’ Chief Executive Officer and Founder, Tuval Ben-Yehezkel, PhD, will join Element Biosciences’ leadership team as Senior Director, Applications. Press release.

Element Biosciences also announced several partnerships this month. A key technical milestone was reached using the Roche KAPA HyperPlus and KAPA EvoPlus library preparation and target enrichment kits in microbial whole genome, human whole genome, and human whole exome sequencing applications (Press release). Parternships were announced with Agilent Technologies to use their SureSelect target enrichment panels and providing customers greater access to these genomic tools (Press release), with New England Biolabs (NEB) to commercially develop and launch products to enable compatibility of the NEBNext Ultra II portfolio with the Element AVITI System (Press release), with QIAGEN to validate its leading NGS library prep and target enrichment offerings on the AVITI System (Press release), with Watchmaker Genomics to use Watchmaker’s DNA and RNA Library Prep Kits on Element’s AVITI System (Press release), with Dovetail Genomics to use their proximity ligation-based next-generation sequencing (NGS) library prep solutions on Element’s AVITI System (Press release), and with Jumpcode Genomics to use their CRISPRclean technology on Element’s AVITI System (Press release).

C2i Genomics, a cancer intelligence company, and Twist Bioscience Corporation, a company enabling customer success through its offering of high-quality synthetic DNA using its silicon platform, announced a partnership to develop whole-genome cancer reference materials. This resource will provide diagnostic labs around the globe with the ability to better validate and monitor the quality of their whole-genome cancer screening and minimal residual disease (MRD) products. In addition, C2i will integrate Twist’s library preparation into their MRD workflow. Under the collaboration, C2i will use its artificial intelligence (AI) to identify a very large set of variants across the entire genome known to be associated with cancer signatures. Twist will then synthesize each of these variants, tuning them up or down to allow for similarity to natural samples, to create a whole-genome sequencing-focused set of reference materials. The reference standard kits will be available through Twist Bioscience. Press release.

SkyPoint Cloud, the privacy-first customer data and artificial intelligence (AI) platform that enables consumer, financial services, and healthcare brands to build deeper relationships with their customers and patients, announced the launch of SkyPoint Profile. SkyPoint Profile is a customer 360 solution that uses AI to create unique, unified customer profiles from multiple data silos, allowing companies to understand a customer’s full journey for better engagement and outcomes. SkyPoint Profile solves a major problem present across healthcare, consumer, and B2B companies—siloed data. Each type of business could have customer or patient data across several different data sources, and businesses do not have one complete profile to rely on, resulting in an incomplete understanding of their patients or customer base. SkyPoint Profile ingests, cleanses, and unifies all customer data to create a complete and comprehensive view of customers and patients. Press release.

Mirvie, a pioneer in predicting unexpected pregnancy complications, announced at the Society for Maternal-Fetal Medicine 42nd Annual Pregnancy Meeting (SMFM 2022) that the Mirvie RNA platform is the first to predict preterm birth by revealing the underlying biology of each pregnancy. The breakthrough research shows the platform can predict the condition months before symptoms occur and identify distinct biological pathways driving its development. Research presented at SMFM 2022 analyzed tens of thousands of RNA messages from 229 diverse pregnancies using the Mirvie RNA platform. In addition to predicting preterm birth months before symptoms occur, the platform identified 24 RNA messages related to dramatic and premature changes to the mom’s cervix and 11 separate RNA messages involved with amino acid metabolism and growth factor pathways in cases of extremely premature birth. The results build on landmark research recently published in Nature demonstrating the Mirvie RNA platform can predict preeclampsia months before symptoms occur. Press release.

Proscia, a leader in digital and computational pathology solutions, and Uppsala University Hospital, Sweden’s oldest university hospital, announced a multi-year agreement to fully digitize the region’s pathology workflows. The division of Laboratory Medicine at Uppsala University Hospital has selected Proscia’s Concentriq Dx digital pathology solution for full-scale digitization and future deployment of AI applications in routine operations at scale, empowering the region’s pathologists to drive increased quality and productivity gains and unlock hidden insights to better inform patient care. Proscia’s Concentriq digital pathology platform is a robust, end-to-end solution for connecting distributed teams, data, and applications across the global enterprise. The flagship software is used by leading laboratories and health systems, as well as 10 of the top 20 pharmaceutical companies. Press release.