![]() ![]() However, as each healthy individual carries approximately 10,000 such variants, hundreds of them are singletons, it is still challenging to correctly identify pathogenic causal variants from benign and non-functional ones in the coding regions. ![]() Amino acid changing variants are probably the most well-studied candidate variant type for pathogenic variants. The issue is especially prominent when the phenotype of interest has low prevalence, such as rare Mendelian disorders where only the proband’s and the parents’ genetic testing data are available. This issue is prominent for rare genetic variants (allele frequency <1%) since traditional methods, such as population-based genome-wide association and whole-exome sequencing studies, lack the power to identify rare pathogenic or causal variants from rare benign variants. However, our current ability to detect genetic variants far exceeds our ability to interpret them, which is one of the significant gaps in effectively utilizing NGS data. Next-generation sequencing (NGS) has dramatically improved our ability to detect genetic variants in the human genome. ![]()
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