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1. genetics.bwh.harvard.edu › pph2PolyPhen-2 prediction of functional effects of human nsSNPs

   genetics.bwh.harvard.edu › pph2

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   21 juin 2021 · PolyPhen-2 is a web-based tool that analyzes the impact of amino acid substitutions on human protein structure and function. Users can submit protein or SNP identifiers, sequences, or positions and choose from various query options and parameters.

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   • PolyPhen-2 [PolyPhen-2 Wiki]

     PolyPhen-2 (Polymorphism Phenotyping v2) is a software tool...

2. grch37.ensembl.org › info › genomePathogenicity predictions - Ensembl

   grch37.ensembl.org › info › genome

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   • Genome Wide Scores
   • Algorithms to Evaluate Missense Variants
   • Prediction Data Format
   • References
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   The level of conservation at a locus is strong predictor of the deleteriousness of any change. As an indicator change tolerance, we display GERP conservation scores on our variant pages. CADD scores are also available for human single nucleotide substitutions.

   Voir la liste complète sur grch37.ensembl.org

   We provide results from a number of algorithms to help evaluate the impact of variants predicted change a genes peptide sequence. In our transcript tables, we display colour-coded scores for each algorithm to support immediate assessment of a set ofvariants, but recommend the actual scores are taken into account when interpreting the impactof an in...

   Voir la liste complète sur grch37.ensembl.org

   Precomputed predictions and scores for missense variants are stored in the variationdatabases and are accessible in the variation API by using methods such as sift_prediction, sift_score, polyphen_prediction and polyphen_score on a Bio::EnsEMBL::Variation::TranscriptVariationAlleleobject. For anyone wishingto access the complete set of predictions ...

   Voir la liste complète sur grch37.ensembl.org

   Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. A method and server for predicting damaging missense mutations Nature Methods 7(4):248-249 (2010) do...

   Dong C., Wei P., Jian X., et al. Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies. Human Molecular Genetics 24(8):2125-2137....

   Cooper G.M., Stone E. A., Asimenos G. et al. Distribution and intensity of constraint in mammalian genomic sequence Genome Res. 15: 901-913 (2005) doi:10.1101/gr.3577405

   Ioannidis, N.M., Rothstein, J.H., Pejaver, V., Middha, S., McDonnell, S.K., Baheti, S., Musolf, A., Li, Q., Holzinger, E., Karyadi, D., et al. REVEL: An Ensemble Method for Predicting the Pathogeni...

   Voir la liste complète sur grch37.ensembl.org

   PolyPhen-2 is a tool that predicts the effect of amino acid substitutions on protein function using sequence homology and other databases. Ensembl Variation provides PolyPhen-2 results for human and other species variants, as well as other algorithms such as SIFT and CADD.

   Voir la liste complète sur grch37.ensembl.org

3. Vidéos

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     6:01

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     PolyPhen-2 Tutorial Series: Submitting a Query using a Protein Sequence

     28 juil. 2023

     569 vues

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     2:32

     youtube.com

     PolyPhen-2 Tutorial Series: Introduction

     28 juil. 2023

     1.3K vues

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     8:18

     youtube.com

     PolyPhen-2 Tutorial Series: Interpreting a PolyPhen-2 Report

     28 juil. 2023

     806 vues

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4. pubmed.ncbi.nlm.nih.gov › 23315928Predicting functional effect of human missense mutations ...

   pubmed.ncbi.nlm.nih.gov › 23315928

   Abstract. PolyPhen-2 (Polymorphism Phenotyping v2), available as software and via a Web server, predicts the possible impact of amino acid substitutions on the stability and function of human proteins using structural and comparative evolutionary considerations.

   • Auteur: Ivan Adzhubei, Daniel M. Jordan, Daniel M. Jordan, Shamil R. Sunyaev

   • Publish Year: 2013

5. ionreporter.thermofisher.com › ionreporter › helpPolyPhen-2 score - Thermo Fisher Scientific

   ionreporter.thermofisher.com › ionreporter › help

   The PolyPhen-2 score predicts the possible impact of an amino acid substitution on the structure and function of a human protein. This score represents the probability that a substitution is damaging. Ion Reporter™ Software reports the pph2-prob PolyPhen-2 score.

6. journals.plos.org › plosone › articlePredicting the Functional Effect of Amino Acid Substitutions ...

   journals.plos.org › plosone › article

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   8 oct. 2012 · PROVEAN is a new algorithm that uses alignment-based score to predict the functional effects of amino acid substitutions and indels. It performs well in separating disease-associated and deleterious variants from common polymorphisms and neutral variants.

   • Auteur: Yongwook Choi, Gregory E. Sims, Sean Murphy, Jason R. Miller, Agnes P. Chan

   • Publish Year: 2012

7. genetics.bwh.harvard.edu › wiki › !pph2PolyPhen-2 [PolyPhen-2 Wiki] - Harvard University

   genetics.bwh.harvard.edu › wiki › !pph2

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   20 juin 2021 · PolyPhen-2 (Polymorphism Phenotyping v2) is a software tool which predicts possible impact of amino acid substitutions on the structure and function of human proteins using straightforward physical and evolutionary comparative considerations.

8. www.jax.org › polyphen2_tutorials_clickablePolyPhen-2 Tutorials - The Jackson Laboratory

   www.jax.org › polyphen2_tutorials_clickable

   Learn how to use PolyPhen-2, a bioinformatics tool that predicts the impact of amino acid substitutions on human proteins. Follow the steps to submit queries using protein identifiers, SNP identifiers, or protein sequences.