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ontology

Genomic Medicine Adoption May be Hindered by Shortcomings in ICD-10 Coding
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Medical geneticists and bioinformaticians seek coding systems that can support accurate genotyping, disease causation, and reimbursement alike.

Ontology Development Kit Looks to Harmonize, Streamline Management of Biomedical Semantics
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The open-source kit, featuring workflows for building and managing ontologies and a toolbox to execute the workflows, has been adopted by more than 70 groups.

International Coalition Building Virtual Cohort of 1.4M Patients
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The Common Infrastructure for National Cohorts in Europe, Canada, and Africa (CINECA) project looks to harmonize ontologies and create an interoperability platform for global genomics research.

Gene42 Standardizes Phenotypic Data to Improve Variant Classification, Rare Disease Dx
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Canada's Gene42, maker of PhenoTips software, recently forged partnerships with CHOP, Genome Canada, and SeqOne in the fight against rare genetic diseases.

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The Scan

Study Examines Relationship Between Cellular Metabolism, DNA Damage Repair

A new study in Molecular Systems Biology finds that an antioxidant enzyme shifts from mitochondria to the nucleus as part of the DNA damage response.

Stem Cell Systems Targets Metastatic Melanoma in Mouse Model

Researchers in Science Translational Medicine describe a pair of stem cell systems aimed at boosting immune responses against metastatic melanoma in the brain.

Open Pediatric Brain Tumor Atlas Team Introduces Genomic Data Collection, Analytical Tools

A study in Cell Genomics outlines open-source methods being used to analyze and translate whole-genome, exome, and RNA sequence data from the Pediatric Brain Tumor Atlas.

Neurological Outcomes Linked to Innate Immune Features After Cardiac Arrest

Researchers reporting in Med dig into immune features found a few hours after cardiac arrest that correspond with neurological outcomes.