A Phenotype-Specific Framework for Identifying the Eye Abnormalities Causative Nonsynonymous-Variants
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چکیده
منابع مشابه
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Identification of the causal genomic variants that alter human phenotypes, particularly those that lead to diseases, is the central goal of human genetics studies. Genome-wide studies have identified several hundreds of common variants associated with complex human diseases and traits. Despite these successes, most of the common variants only have a small individual contribution to the estimate...
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Accurate prediction of the pathogenicity of genomic variants, especially nonsynonymous single nucleotide variants (nsSNVs), is essential in biomedical research and clinical genetics. Most current prediction methods build a generic classifier for all genes. However, different genes and gene families have different features. We investigated whether gene-specific and family-specific customized cla...
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ژورنال
عنوان ژورنال: SSRN Electronic Journal
سال: 2020
ISSN: 1556-5068
DOI: 10.2139/ssrn.3586993