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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
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Automated Methods Enable Direct Computation on Phenotypic Descriptions for Novel Candidate Gene Prediction.
Ian R Braun1,2, Carolyn J Lawrence-Dill1,2,3
1Department of Genetics, Development, and Cell Biology, Iowa State University, Ames, IA, United States.
Frontiers in Plant Science
|January 31, 2020
Summary
We computationally translated plant phenotype descriptions into structured data using entity-quality (EQ) formalisms and natural language processing (NLP) methods. These automated approaches successfully capture biological information, enabling scalable analysis for genetics research.
Area of Science:
- Genetics and Genomics
- Computational Biology
- Plant Science
Background:
- Natural language descriptions of plant phenotypes are valuable for genetics and genomics.
- Extracting structured information from these descriptions is challenging but crucial for analysis.
- Existing methods may not be scalable for large datasets.
Purpose of the Study:
- To computationally translate natural language plant phenotype descriptions into structured representations.
- To evaluate the performance of these computational methods against manually curated data.
- To enable scalable, automated analysis of phenotypic information.
Main Methods:
- Utilized the entity-quality (EQ) formalism for structured phenotype representation.
- Employed natural language processing (NLP) methods, including bag-of-words and document embedding, for numerical vector representations.
- Compared computationally derived similarity measures with those from manually curated data.
Main Results:
- Computationally derived EQ and vector representations effectively recapitulated biological truth.
- NLP-based vector representations demonstrated scalability for large text volumes without human input.
- Automated methods achieved comparable success to manual curation in representing phenotypes.
Conclusions:
- Automated computational methods can successfully generate structured phenotype representations from natural language.
- Natural language processing (NLP) offers a scalable solution for analyzing large-scale phenotypic data.
- This facilitates the creation of accessible information resources for direct querying by researchers.
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