Concepedia

Evaluation of computational techniques for predicting non-synonymous single nucleotide variants pathogenicity

Marwa S. Hassan, A. A. Shaalan, Moawad I. Dessouky, Abdelaziz E. Abdelnaiem, Mahmoud ElHefnawi

Genomics · 2018 · 55 citations · 32 references

DOI

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References

32

The Phyre2 web portal for protein modeling, prediction and analysis

Lawrence A. Kelley, Stefans Mezulis, Christopher M. Yates et al. · Nature Protocols · 2015 · 10.2K citations · Full text

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A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text

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Predicting the Functional Effect of Amino Acid Substitutions and Indels

Yongwook Choi, Gregory E. Sims, Sean V. Murphy et al. · PLoS ONE · 2012 · 3K citations · Full text

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REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

Nilah M. Ioannidis, Joseph H. Rothstein, Vikas Pejaver et al. · The American Journal of Human Genetics · 2016 · 3K citations · Full text

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SIFT web server: predicting effects of amino acid substitutions on proteins

Ngak-Leng Sim, P. Naresh Kumar, Jing Hu et al. · Nucleic Acids Research · 2012 · 2.5K citations · Full text

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