DEOGEN2: prediction and interactive visualization of single amino acid variant deleteriousness in human proteins

Nucleic Acids Research
Daniele RaimondiWim Vranken

Abstract

High-throughput sequencing methods are generating enormous amounts of genomic data, giving unprecedented insights into human genetic variation and its relation to disease. An individual human genome contains millions of Single Nucleotide Variants: to discriminate the deleterious from the benign ones, a variety of methods have been developed that predict whether a protein-coding variant likely affects the carrier individual's health. We present such a method, DEOGEN2, which incorporates heterogeneous information about the molecular effects of the variants, the domains involved, the relevance of the gene and the interactions in which it participates. This extensive contextual information is non-linearly mapped into one single deleteriousness score for each variant. Since for the non-expert user it is sometimes still difficult to assess what this score means, how it relates to the encoded protein, and where it originates from, we developed an interactive online framework (http://deogen2.mutaframe.com/) to better present the DEOGEN2 deleteriousness predictions of all possible variants in all human proteins. The prediction is visualized so both expert and non-expert users can gain insights into the meaning, protein context and origi...Continue Reading

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Citations

Nov 7, 2019·Protein Science : a Publication of the Protein Society·Arun Prasad Pandurangan, Tom L Blundell
May 16, 2020·PLoS Computational Biology·Jimin PeiNick V Grishin
Jul 7, 2020·Molecular Systems Biology·Benjamin J Livesey, Joseph A Marsh
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Dec 11, 2020·Nucleic Acids Research·Stefano CastellanaTommaso Mazza
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Jan 12, 2021·Journal of Genetics and Genomics = Yi Chuan Xue Bao·Sirvan KhalighiVinay Varadan
Mar 9, 2021·Frontiers in Genetics·Maria Angela DiromaStefania Vai
Mar 8, 2021·Journal of Molecular Biology·Jimin Pei, Nick V Grishin
Apr 4, 2021·Genes·Zureesha SajidZubair M Ahmed
May 1, 2021·International Journal of Molecular Sciences·François AncienMarianne Rooman
Jul 2, 2021·Scientific Reports·Jia-Jun LiuChih-Hao Lu
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Sep 3, 2021·Briefings in Bioinformatics·Mohammad Reza KarimiUlf Schmitz
Oct 7, 2021·American Journal of Medical Genetics. Part a·Ahmed FarhanClifford R Weiss

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