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human genetic variant database  (ClinGen Resource)

 
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    ClinGen Resource human genetic variant database
    Human Genetic Variant Database, supplied by ClinGen Resource, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/result/human genetic variant database/product/ClinGen Resource
    Average 90 stars, based on 1 article reviews
    human genetic variant database - by Bioz Stars, 2026-05
    90/100 stars

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    human genetic variant database  (ClinGen Resource)
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    public database of human genetic variants and their significance to disease (clinvar)  (Biotechnology Information)
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    OptiMo‐LDLr flowchart. Pathogenicity predictions of six software were applied to 669 LDLR variants with known pathogenicity obtained from <t>ClinVar.</t> A non‐optimized predictive model was developed using the predictions of the 6 software, and the potential pathogenicity of each residue in LDLr was calculated. Afterward, the model was optimized using ESEA algorithm to increase the accuracy of the predictions. The pathogenicity predictions of the resulting model were implemented into a user‐friendly software. The potential pathogenicity of each LDLr residue were calculated using the optimized model, and the results were displayed in a hot spot map.
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    database of 95,000 human genetic variants  (Illumina Inc)
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    OptiMo‐LDLr flowchart. Pathogenicity predictions of six software were applied to 669 LDLR variants with known pathogenicity obtained from <t>ClinVar.</t> A non‐optimized predictive model was developed using the predictions of the 6 software, and the potential pathogenicity of each residue in LDLr was calculated. Afterward, the model was optimized using ESEA algorithm to increase the accuracy of the predictions. The pathogenicity predictions of the resulting model were implemented into a user‐friendly software. The potential pathogenicity of each LDLr residue were calculated using the optimized model, and the results were displayed in a hot spot map.
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    OptiMo‐LDLr flowchart. Pathogenicity predictions of six software were applied to 669 LDLR variants with known pathogenicity obtained from ClinVar. A non‐optimized predictive model was developed using the predictions of the 6 software, and the potential pathogenicity of each residue in LDLr was calculated. Afterward, the model was optimized using ESEA algorithm to increase the accuracy of the predictions. The pathogenicity predictions of the resulting model were implemented into a user‐friendly software. The potential pathogenicity of each LDLr residue were calculated using the optimized model, and the results were displayed in a hot spot map.

    Journal: Advanced Science

    Article Title: OptiMo‐LDLr: An Integrated In Silico Model with Enhanced Predictive Power for LDL Receptor Variants, Unraveling Hot Spot Pathogenic Residues

    doi: 10.1002/advs.202305177

    Figure Lengend Snippet: OptiMo‐LDLr flowchart. Pathogenicity predictions of six software were applied to 669 LDLR variants with known pathogenicity obtained from ClinVar. A non‐optimized predictive model was developed using the predictions of the 6 software, and the potential pathogenicity of each residue in LDLr was calculated. Afterward, the model was optimized using ESEA algorithm to increase the accuracy of the predictions. The pathogenicity predictions of the resulting model were implemented into a user‐friendly software. The potential pathogenicity of each LDLr residue were calculated using the optimized model, and the results were displayed in a hot spot map.

    Article Snippet: In addition, the public database of human genetic variants and their significance to disease (ClinVar), [ ] managed by the National Centre for Biotechnology Information (NCBI), was used as a source for gathering information related to the LDLR variants described so far.

    Techniques: Software, Residue