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Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders.

, , , , , , , , и . Bioinform., 27 (6): 829-836 (2011)

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Ontologizing gene-expression microarray data: characterizing clusters with Gene Ontology, , , и . Bioinform., 20 (6): 979-981 (2004)Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery., , , , , , , , , и 1 other автор(ы). Database J. Biol. Databases Curation, (2019)An Improved Statistic for Detecting Over-Represented Gene Ontology Annotations in Gene Sets., , , и . RECOMB, том 3909 из Lecture Notes in Computer Science, стр. 85-98. Springer, (2006)Human genotype–phenotype databases: aims, challenges and opportunities, и . Nature Reviews Genetics, 16 (12): 702--715 (10.11.2015)Ensembling Descendant Term Classifiers to Improve Gene - Abnormal Phenotype Predictions., , , , , и . CIBB, том 10834 из Lecture Notes in Computer Science, стр. 70-80. Springer, (2017)A Hierarchical Ensemble Method for DAG-Structured Taxonomies., , , , , и . MCS, том 9132 из Lecture Notes in Computer Science, стр. 15-26. Springer, (2015)Enhancing the Human Phenotype Ontology for Use by the Layperson., , , , , , и . ICBO/BioCreative, том 1747 из CEUR Workshop Proceedings, CEUR-WS.org, (2016)PhenoTagger: a hybrid method for phenotype concept recognition using human phenotype ontology., , , , , , , , , и . Bioinform., 37 (13): 1884-1890 (2021)Improved detection of overrepresentation of Gene-Ontology annotations with parent-child analysis., , , и . Bioinform., 23 (22): 3024-3031 (2007)Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases., , , , и . Briefings Bioinform., (2022)