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Using Bioinformatics Tools for Identifying Disease-Causal Genetic Variants from Human Genomes
2015
International Journal of Bio-Science and Bio-Technology
Identification of the disease-causal genomic variants that alter human phenotypes, particularly those that lead to diseases, is the central goal of human genetics studies. In the past decade, 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 estimated heritability underlying common diseases and traits. Many explanations
doi:10.14257/ijbsbt.2015.7.6.29
fatcat:pplv7uthsbdvdfc2pkccuk3ptq