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Capturing phenotypes for precision medicine
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Zeitschriftentitel: | Molecular Case Studies |
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Personen und Körperschaften: | , , |
In: | Molecular Case Studies, 1, 2015, 1, S. a000372 |
Format: | E-Article |
Sprache: | Englisch |
veröffentlicht: |
Cold Spring Harbor Laboratory
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Schlagwörter: |
author_facet |
Robinson, Peter N. Mungall, Christopher J. Haendel, Melissa Robinson, Peter N. Mungall, Christopher J. Haendel, Melissa |
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author |
Robinson, Peter N. Mungall, Christopher J. Haendel, Melissa |
spellingShingle |
Robinson, Peter N. Mungall, Christopher J. Haendel, Melissa Molecular Case Studies Capturing phenotypes for precision medicine General Medicine |
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robinson, peter n. |
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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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Capturing phenotypes for precision medicine |
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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 |
publishDate |
2015 |
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a000372 |
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<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 |
author_facet | Robinson, Peter N., Mungall, Christopher J., Haendel, Melissa, Robinson, Peter N., Mungall, Christopher J., Haendel, Melissa |
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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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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 |