OMIM

Bionano Announces Significant Upgrades to its Bionano Solve Pipeline and its VIA™ Software for OGM Data Analysis in Constitutional Genetic Disease Research

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Thursday, December 28, 2023
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SAN DIEGO, Dec. 28, 2023 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO), today announced significant upgrades to its pipeline for analysis of optical genome mapping (OGM) data in its VIA™ software for applications in constitutional genetic disease.

Key Points: 
  • SAN DIEGO, Dec. 28, 2023 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO), today announced significant upgrades to its pipeline for analysis of optical genome mapping (OGM) data in its VIA™ software for applications in constitutional genetic disease.
  • The latest analysis pipeline, Bionano Solve 3.8.1, enhances the sensitivity and specificity for structural variation (SV) detection from OGM data, which, when combined with copy number variant (CNV) analysis capabilities introduced in July 2023, further advance OGM’s leadership in variant detection.
  • Together with the enhanced performance for SV and CNV calling, VIA software now enables the most comprehensive visualization, interpretation and reporting of SVs and CNVs from OGM data in constitutional genetic disease research.
  • The progress announced today helps the constitutional genetic disease research community go beyond the capabilities of Bionano Access™ software in a way that significantly improves their ability to visualize, interpret and report results in a streamlined process that runs faster than ever.

Bionano Announces Publication that Demonstrates OGM’s Utility for Resolving Complex Genetic Variation in Inherited Retinal Disease

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Thursday, April 6, 2023
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Their results identified several pathogenic SVs had been overlooked in their initial genome analyses by NGS.

Key Points: 
  • Their results identified several pathogenic SVs had been overlooked in their initial genome analyses by NGS.
  • The publication illustrates the potential impact of combining NGS and OGM for more comprehensive variant analysis.
  • Genetic research in this area may help to improve the accuracy of diagnosis, prognostication, and treatment prospects of targeted therapeutics.
  • With new gene therapy and clinical trials related to IRD, research into the underlying genetic cause of IRDs is critical.

ResoluteAI integrates IEEE Metadata into its Foundation Scientific Research Platform

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Wednesday, September 28, 2022
Technology, Biotechnology, Engineering, Health, Other Energy, Manufacturing, Energy, Publishing, Research, Telecommunications, Software, Communications, Science, Data Management, Computational biology, List of IEEE publications, Biomedicine, Electronics, Engineering, FDA, Biomedical engineering, RxNorm, Publication, OMIM, Telecommunication, IEEE, IEEE Xplore, CEO, Technology, IEEE Journal of Quantum Electronics, Nebula, Xplore, Metadata, Foundation, Science, Research, Biotechnology, MedDRA, Mobile phone

ResoluteAI, the research platform for science, announced today the addition of metadata from IEEE peer reviewed content to its Foundation service .

Key Points: 
  • ResoluteAI, the research platform for science, announced today the addition of metadata from IEEE peer reviewed content to its Foundation service .
  • This represents approximately 30% of the worlds literature in the electrical and electronics engineering and computer science fields, making IEEE an invaluable resource for scientific research across multiple industries.
  • We believe access to this information for our Foundation customers will be of tremendous value, said Steve Goldstein, CEO of ResoluteAI.
  • IEEE peer-reviewed journals and conference proceedings are now discoverable within the ResoluteAI platform , enabling IEEE subscribers to link through to access the full-text at the IEEE Xplore digital library.

ResoluteAI Announces the Integration of New Ontologies, Taxonomies, and Controlled Vocabularies for More Precise Research and Serendipitous Discovery

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Wednesday, June 8, 2022
Data Management, Biotechnology, Technology, Health, General Health, Pharmaceutical, Research, Software, Networks, Internet, Science, Online, Ontology, Science, Human, Pharmacovigilance, Disorder, RxNorm, Research, Agriculture, Classification, Food, Catalog, Terminology, PubMed, Tagged, CEO, GO, OMIM, Nebula, Genotype, FDA, National library, Metadata, Knowledge Organization (journal), Phenotype, Gene ontology, Medical dictionary, Medical Subject Headings, Collection, PubChem, MedDRA, SNOMED, Pharmaceutical industry, Medical device, Medicine, Foundation

ResoluteAI, the research platform for science, announced today the integration of seven new ontologies, taxonomies, and controlled vocabularies (OTCVs) to the tagging and classification process on Foundation , its flagship scientific research product.

Key Points: 
  • ResoluteAI, the research platform for science, announced today the integration of seven new ontologies, taxonomies, and controlled vocabularies (OTCVs) to the tagging and classification process on Foundation , its flagship scientific research product.
  • We believe the scientific research process can be significantly enhanced and accelerated by giving users enriched data, said Steve Goldstein, CEO of ResoluteAI.
  • These additional ontologies, taxonomies, and controlled vocabularies will dramatically improve our users research capabilities and increase opportunities for serendipitous scientific discovery, Goldstein continued.
  • Combined with our interactive analytics and downloadable visualizations, ResoluteAI helps make connections that lead to breakthrough discoveries.

RARE-X Releases New Report that Uncovers Large Number of Previously Uncounted Rare Diseases

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Tuesday, June 7, 2022
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Ensuring that the true magnitude of rare diseases is understood is critical, said Charlene Son Rigby, CEO of RARE-X.

Key Points: 
  • Ensuring that the true magnitude of rare diseases is understood is critical, said Charlene Son Rigby, CEO of RARE-X.
  • If patient communities, researchers, drug developers, and policymakers are to address rare diseases, its essential to understand the magnitude of the problem.
  • The study authors developed a reproducible methodology to identify the accurate number of rare diseases.
  • The analysis showed that there are as many as 10,867 rare diseases, including genetic and non-genetic diseases.

Genomenon Extends Insight into Genomic Evidence with Mastermind Search Companion

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Tuesday, November 30, 2021
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Mastermind Search Companion seamlessly integrates Mastermind's insight into the scientific literature with the online resources variant analysts already use.

Key Points: 
  • Mastermind Search Companion seamlessly integrates Mastermind's insight into the scientific literature with the online resources variant analysts already use.
  • This allows analysts to quickly navigate their standard search sites and expand them with Mastermind search results.
  • Mastermind Search Companion delivers the ability to get more insight within any existing process and set of databases.
  • "Genomenon's Search Companion extends Mastermind's support into additional variant databases for everyone tasked with interpreting genomic data," said Mike Klein, Genomenon CEO.

Twist Bioscience and the Broad Institute Create Custom Whole Exome Target Enrichment Panel for Clinical Research

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Wednesday, October 13, 2021
Health, Technology, Nanotechnology, Research, Science, Biotechnology, Well, Risk, Exome, Twist Bioscience, Technology, Martek Biosciences Corporation, Genome, Private Securities Litigation Reform Act, Gene, Silicon, Cancer, Security (finance), Doctor of Philosophy, Genomics, Engineering, Synthetic biology, SEC, Knowledge, Efficiency, COSMIC, Broad, DNA, OMIM, National Human Genome Research Institute, Biology, Broad Institute, Research, Collection, NGS, Agriculture, U.S. Securities and Exchange Commission, NASDAQ, Sequence, Partnership, Drug discovery, Fine chemical, Twist Alliance Panels, Twist Bioscience Corporation, TWIST ALLIANCE PANELS, TWIST BIOSCIENCE CORPORATION

Twist will market this expert-developed exome panel as the Twist Alliance Clinical Research Exome .

Key Points: 
  • Twist will market this expert-developed exome panel as the Twist Alliance Clinical Research Exome .
  • The Twist Alliance Clinical Research Exome helps support the Broad Institute Genomics Platform and was designed using validated data from clinical patient samples.
  • Exome sequencing has long been a key part of our sequencing efforts for large cancer and germline research studies.
  • Well designed, custom target enrichment panels enable increased sequencing depth on target genes while reducing overall sequencing.

Helsinn Group announces oral presentation of data at AACR-NCI-EORTC relating to a potent and highly selective investigational RET inhibitor

Retrieved on: 
Thursday, October 7, 2021
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One abstract has been accepted for oral presentation and shows findings on TAS0953/HM06, the selective RET inhibitor under investigation in non-small cell lung cancer (NSCLC) and other cancers.

Key Points: 
  • One abstract has been accepted for oral presentation and shows findings on TAS0953/HM06, the selective RET inhibitor under investigation in non-small cell lung cancer (NSCLC) and other cancers.
  • The abstract is entitled Discovery of TAS0953/HM06, a novel next generation RET-specific inhibitor capable of inhibiting RET solvent front mutations.
  • Although first-generation selective RET inhibitors show clinical antitumor activity in NSCLC, acquired resistances driven by RET solvent front mutations have emerged.
  • TAS0953/HM06 is an oral potent and highly selective RET inhibitor in development for advanced or metastatic Non-Small Cell Lung Cancer (NSCLC) and other tumors which express RET gene abnormalities.