Calculating rfPred scores with package rfPred
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چکیده
Exome sequencing is becoming a standard tool for gene mapping of monogenic diseases. Given the vast amount of data generated by Next Generation Sequencing techniques, identification of disease causal variants is like finding a needle in a haystack. The impact assessment and the prioritization of potential pathogenic variants are expected to reduce work in biological validation, which is long and costly.
منابع مشابه
Rfpred: a Random Forest Approach for Prediction of Missense Variants in Human Exome
Exome sequencing is becoming a standard tool for gene mapping of genetic diseases. Given the vast amount of data generated by Next Generation Sequencing techniques, identification of disease causal variants is like finding a needle in a haystack. The impact assessment and the prioritization of potential pathogenic variants are expected to reduce work in biological validation, which is long and ...
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تاریخ انتشار 2013