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Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 555, doi. 10.1007/s10545-017-0125-4
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- Article
CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase.
- Published in:
- Nucleic Acids Research, 2023, v. 51, n. D1, p. D1230, doi. 10.1093/nar/gkac979
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- Article
LIONS: analysis suite for detecting and quantifying transposable element initiated transcription from RNA-seq.
- Published in:
- Bioinformatics, 2019, v. 35, n. 19, p. 3839, doi. 10.1093/bioinformatics/btz130
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- Publication type:
- Article
A collaborative filtering-based approach to biomedical knowledge discovery.
- Published in:
- Bioinformatics, 2018, v. 34, n. 4, p. 652, doi. 10.1093/bioinformatics/btx613
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- Publication type:
- Article
Text-mining clinically relevant cancer biomarkers for curation into the CIViC database.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0686-y
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- Publication type:
- Article