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  1. Protocol

    A Practical Approach to Using the Genomic Standards Consortium MIxS Reporting Standard for Comparative Genomics and Metagenomics

    Comparative analysis of (meta)genomes necessitates aggregation, integration, and synthesis of well-annotated data using standards. The Genomic Standards Consortium (GSC) collaborates with the research communit...

    Emiley A. Eloe-Fadrosh, Christopher J. Mungall, Mark Andrew Miller in Comparative Genomics (2024)

  2. Article

    Open Access

    Modeling the enigma of complex disease etiology

    Complex diseases often present as a diagnosis riddle, further complicated by the combination of multiple phenotypes and diseases as features of other diseases. With the aim of enhancing the determination of ke...

    Lynn M. Schriml, Richard Lichenstein in Journal of Translational Medicine (2023)

  3. Article

    Open Access

    A comprehensive update on CIDO: the community-based coronavirus infectious disease ontology

    The current COVID-19 pandemic and the previous SARS/MERS outbreaks of 2003 and 2012 have resulted in a series of major global public health crises. We argue that in the interest of develo** effective and saf...

    Yongqun He, Hong Yu, Anthony Huffman, Asiyah Yu Lin in Journal of Biomedical Semantics (2022)

  4. No Access

    Article

    A community approach to the cancer-variant-interpretation bottleneck

    As guidelines, therapies and literature on cancer variants expand, the lack of consensus variant interpretations impedes clinical applications. CIViC is a public-domain, crowd-sourced and adaptable knowledgeba...

    Kilannin Krysiak, Arpad M. Danos, Susanna Kiwala, Joshua F. McMichael in Nature Cancer (2022)

  5. Article

    Open Access

    COVID-19 pandemic reveals the peril of ignoring metadata standards

    Efficient response to the pandemic through the mobilization of the larger scientific community is challenged by the limited reusability of the available primary genomic data. Here, the Genomic Standards Consor...

    Lynn M. Schriml, Maria Chuvochina, Neil Davies, Emiley A. Eloe-Fadrosh in Scientific Data (2020)

  6. Article

    Open Access

    A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer

    Precision oncology relies on accurate discovery and interpretation of genomic variants, enabling individualized diagnosis, prognosis and therapy selection. We found that six prominent somatic cancer variant kn...

    Alex H. Wagner, Brian Walsh, Georgia Mayfield, David Tamborero in Nature Genetics (2020)

  7. Article

    Open Access

    FoodOn: a harmonized food ontology to increase global food traceability, quality control and data integration

    The construction of high capacity data sharing networks to support increasing government and commercial data exchange has highlighted a key roadblock: the content of existing Internet-connected information rem...

    Damion M. Dooley, Emma J. Griffiths, Gurinder S. Gosal in npj Science of Food (2018)

  8. Article

    Open Access

    Molecular, phenotypic, and sample-associated data to describe pluripotent stem cell lines and derivatives

    The use of induced pluripotent stem cells (iPSC) derived from independent patients and sources holds considerable promise to improve the understanding of development and disease. However, optimized use of iPSC...

    Kenneth Daily, Shannan J. Ho Sui, Lynn M. Schriml, Phillip J. Dexheimer in Scientific Data (2017)

  9. Article

    Open Access

    The Disease Ontology: fostering interoperability between biological and clinical human disease-related data

    The Disease Ontology (DO) enables cross-domain data integration through a common standard of human disease terms and their etiological descriptions. Standardized disease descriptors that are integrated across ...

    Lynn M. Schriml, Elvira Mitraka in Mammalian Genome (2015)

  10. Article

    Open Access

    Report of the 13th Genomic Standards Consortium Meeting, Shenzhen, China, March 4–7, 2012

    This report details the outcome of the 13th Meeting of the Genomic Standards Consortium. The three-day conference was held at the Kingkey Palace Hotel, Shenzhen, China, on March 5–7, 2012, and was hosted by the B...

    Jack A. Gilbert, Yiming Bao, Hui Wang in Standards in Genomic Sciences (2012)

  11. Article

    Open Access

    Metagenomics: A foundling finds its feet

    Jack A. Gilbert, Folker Meyer, Dawn Field, Lynn M. Schriml in Standards in Genomic Sciences (2010)

  12. No Access

    Chapter and Conference Paper

    Gemina: A Web-Based Epidemiology and Genomic Metadata System Designed to Identify Infectious Agents

    The Gemina system (http://gemina.tigr.org) developed at TIGR is a tool for identification of microbial and viral pathogens and their associated genomic sequences based on the associated epidemiological data. G...

    Lynn M. Schriml, Aaron Gussman in Intelligence and Security Informatics: Bio… (2007)

  13. No Access

    Protocol

    Resources for Genetic and Genomic Studies of Xenopus

    The National Institutes of Health Xenopus Initiative is a concerted effort to interact with the Xenopus research community to identify the community’s needs; to devise strategies to meet those needs; and to suppo...

    Steven L. Klein, Daniela S. Gerhard, Lukas Wagner, Paul Richardson in Xenopus Protocols (2006)

  14. No Access

    Article

    An ATP-binding cassette gene (ABCG3) closely related to the multidrug transporter ABCG2 (MXR/ABCP) has an unusual ATP-binding domain

    Lyn Mickley, Pawan Jain, Keisuke Miyake, Lynn M. Schriml, Konetti Rao in Mammalian Genome (2001)