author_facet Robinson, Peter N.
Mungall, Christopher J.
Haendel, Melissa
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Mungall, Christopher J.
Haendel, Melissa
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Mungall, Christopher J.
Haendel, Melissa
spellingShingle Robinson, Peter N.
Mungall, Christopher J.
Haendel, Melissa
Molecular Case Studies
Capturing phenotypes for precision medicine
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spelling Robinson, Peter N. Mungall, Christopher J. Haendel, Melissa 2373-2865 2373-2873 Cold Spring Harbor Laboratory General Medicine http://dx.doi.org/10.1101/mcs.a000372 <jats:p>Deep phenotyping followed by integrated computational analysis of genotype and phenotype is becoming ever more important for many areas of genomic diagnostics and translational research. The overwhelming majority of clinical descriptions in the medical literature are available only as natural language text, meaning that searching, analysis, and integration of medically relevant information in databases such as PubMed is challenging. The new journal <jats:italic>Cold Spring Harbor Molecular Case Studies</jats:italic> will require authors to select Human Phenotype Ontology terms for research papers that will be displayed alongside the manuscript, thereby providing a foundation for ontology-based indexing and searching of articles that contain descriptions of phenotypic abnormalities—an important step toward improving the ability of researchers and clinicians to get biomedical information that is critical for clinical care or translational research.</jats:p> Capturing phenotypes for precision medicine Molecular Case Studies
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title Capturing phenotypes for precision medicine
title_unstemmed Capturing phenotypes for precision medicine
title_full Capturing phenotypes for precision medicine
title_fullStr Capturing phenotypes for precision medicine
title_full_unstemmed Capturing phenotypes for precision medicine
title_short Capturing phenotypes for precision medicine
title_sort capturing phenotypes for precision medicine
topic General Medicine
url http://dx.doi.org/10.1101/mcs.a000372
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description <jats:p>Deep phenotyping followed by integrated computational analysis of genotype and phenotype is becoming ever more important for many areas of genomic diagnostics and translational research. The overwhelming majority of clinical descriptions in the medical literature are available only as natural language text, meaning that searching, analysis, and integration of medically relevant information in databases such as PubMed is challenging. The new journal <jats:italic>Cold Spring Harbor Molecular Case Studies</jats:italic> will require authors to select Human Phenotype Ontology terms for research papers that will be displayed alongside the manuscript, thereby providing a foundation for ontology-based indexing and searching of articles that contain descriptions of phenotypic abnormalities—an important step toward improving the ability of researchers and clinicians to get biomedical information that is critical for clinical care or translational research.</jats:p>
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author Robinson, Peter N., Mungall, Christopher J., Haendel, Melissa
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spelling Robinson, Peter N. Mungall, Christopher J. Haendel, Melissa 2373-2865 2373-2873 Cold Spring Harbor Laboratory General Medicine http://dx.doi.org/10.1101/mcs.a000372 <jats:p>Deep phenotyping followed by integrated computational analysis of genotype and phenotype is becoming ever more important for many areas of genomic diagnostics and translational research. The overwhelming majority of clinical descriptions in the medical literature are available only as natural language text, meaning that searching, analysis, and integration of medically relevant information in databases such as PubMed is challenging. The new journal <jats:italic>Cold Spring Harbor Molecular Case Studies</jats:italic> will require authors to select Human Phenotype Ontology terms for research papers that will be displayed alongside the manuscript, thereby providing a foundation for ontology-based indexing and searching of articles that contain descriptions of phenotypic abnormalities—an important step toward improving the ability of researchers and clinicians to get biomedical information that is critical for clinical care or translational research.</jats:p> Capturing phenotypes for precision medicine Molecular Case Studies
spellingShingle Robinson, Peter N., Mungall, Christopher J., Haendel, Melissa, Molecular Case Studies, Capturing phenotypes for precision medicine, General Medicine
title Capturing phenotypes for precision medicine
title_full Capturing phenotypes for precision medicine
title_fullStr Capturing phenotypes for precision medicine
title_full_unstemmed Capturing phenotypes for precision medicine
title_short Capturing phenotypes for precision medicine
title_sort capturing phenotypes for precision medicine
title_unstemmed Capturing phenotypes for precision medicine
topic General Medicine
url http://dx.doi.org/10.1101/mcs.a000372