Genotype-Phenotype Databases is a structured collection of curated observational and experimental data that systematically links genetic variations, particularly germline variants, to associated phenotypic manifestations, enabling evidence-based classification and interpretation of variant pathogenicity in human genetic disorders.
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The Genotype-Tissue Expression (GTEx) project.
The MR-Base platform supports systematic causal inference across the human phenome
Gibran Hemani, Jie Zheng, Benjamin Elsworth et al. · eLife · 2018 · 8.4K citations · Full text
dbSNP: the NCBI database of genetic variation
Stephen T. Sherry · Nucleic Acids Research · 2001 · 7.8K citations · Full text
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Jackson Laboratory
Bar Harbor, United States
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Bethesda, United States
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178 publications
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Inserm
Paris, France
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105 publications
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University of Cambridge
Cambridge, United Kingdom
21 h-index
70 publications
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National Center for Biotechnology Information
Bethesda, United States
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Leiden University Medical Center
Leiden, The Netherlands
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London, United Kingdom
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Rotterdam, The Netherlands
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