C
Christopher J. Mungall
Researcher at Lawrence Berkeley National Laboratory
Publications - 279
Citations - 48324
Christopher J. Mungall is an academic researcher from Lawrence Berkeley National Laboratory. The author has contributed to research in topics: Ontology (information science) & Open Biomedical Ontologies. The author has an hindex of 76, co-authored 242 publications receiving 40589 citations. Previous affiliations of Christopher J. Mungall include Howard Hughes Medical Institute & J. Craig Venter Institute.
Papers
More filters
Journal ArticleDOI
Clinical interpretation of CNVs with cross-species phenotype data
Sebastian Köhler,Uwe Schoeneberg,Johanna Christina Czeschik,Sandra C. Doelken,Jayne Y. Hehir-Kwa,Jonas Ibn-Salem,Christopher J. Mungall,Damian Smedley,Melissa A. Haendel,Peter N. Robinson +9 more
TL;DR: An integrated ranking scheme based on phenotypic matching, degree of overlap with known benign or pathogenic CNVs and the haploinsufficiency score for the prioritisation of CNVs responsible for a patient's clinical findings is presented.
Posted ContentDOI
Use of OWL within the Gene Ontology
TL;DR: The Gene Ontology (GO) as mentioned in this paper is one of the most well-known ontologies in or outside the life sciences and is well-axiomatized in OWL and highly dependent on the OWL tool stack.
Journal ArticleDOI
Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics
Sebastian Köhler,N. Christine Øien,Orion J. Buske,Tudor Groza,Julius O.B. Jacobsen,Craig McNamara,Nicole Vasilevsky,Leigh C. Carmody,Jean-Philippe F. Gourdine,Michael A. Gargano,Julie A. McMurry,Daniel Danis,Christopher J. Mungall,Damian Smedley,Melissa A. Haendel,Melissa A. Haendel,Peter N. Robinson +16 more
TL;DR: This article explains how to choose an optimal set of HPO terms for these cases and enter them with software, and demonstrates how to use Phenomizer and Exomiser to generate a computational differential diagnosis.
Proceedings ArticleDOI
WebinTool: a generic Web to database interface building tool
TL;DR: The key component of the WebinTool is an interface tool language which mainly consists of the HTML statements and dedicated SQL-based data manipulation statements which can be used to create a variety of user-customized Web interfaces.
Book ChapterDOI
Experiences Using Logic Programming in Bioinformatics
TL;DR: Blipkit has models of different aspects of life sciences data, including genes and gene sequences, RNA structures, evolutionary relationships, phenotypes and biological interactions, which can be combined to answer complex questions spanning multiple datasources.