2 citations
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April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This article discusses the MendelVar webserver, which integrates Mendelian disease data with GWAS findings to prioritize candidate genes for complex traits and reports no new experimental results.
85 citations
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June 2015 in “Scientific Reports” This study applied semantic text-mining to identify phenotypes linked to over 6,000 diseases, demonstrating that these phenotypes can accurately identify known disease-associated genes, creating a human disease network based on phenotypic similarity.
June 2026 in “arXiv (Cornell University)” This study proposes a new test for genome-wide association studies that incorporates Hardy-Weinberg equilibrium into SNP analysis, demonstrating improved power and interpretability over traditional methods, as evidenced by simulations and an alopecia study dataset.
37 citations
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December 2014 in “Journal of Biomedical Informatics” This study introduced LabeledIn, a semi-automatic, human-reviewed catalog of drug-disease treatment relationships, highlighting the important role of human input in creating accurate and detailed drug indication resources.
2 citations
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January 2019 in “Medizinische Genetik” Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.