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Citations per year

Number of citations per year for the bioinformatics software tool Condel
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Tool usage distribution map

This map represents all the scientific publications referring to Condel per scientific context
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Protocols

Condel specifications

Information


Unique identifier OMICS_00146
Name Condel
Alternative names CONsensus DELeteriousness score of missense SNVs, FannsDB web server
Interface Web user interface
Restrictions to use None
Computer skills Basic
Version 1.0
Stability Beta
Registration required Yes
Maintained Yes

Taxon


  • Primates
    • Homo sapiens

Maintainers


  • person_outline Abel González-Pérez
  • person_outline Núria López-Bigas

Publication for CONsensus DELeteriousness score of missense SNVs

Condel citations

 (114)
library_books

Computational Protein Phenotype Characterization of IL10RA Mutations Causative to Early Onset Inflammatory Bowel Disease (IBD)

2018
Front Genet
PMCID: 5934427
PMID: 29755507
DOI: 10.3389/fgene.2018.00146

[…] ing their strong association with IBD and consensus scoring scheme. The statistical analysis has revealed significant relation among different tools (Table ). CADD outperformed Provean, PolyPhen, and Condel in most of the statistical measures namely Youden's index, MCC, AUC and specificity. Pair-wise combinations results showed improved performance with PolyPhen + CADD exhibiting optimal balance b […]

library_books

Delineation of the genetic and clinical spectrum of Phelan McDermid syndrome caused by SHANK3 point mutations

2018
Mol Autism
PMCID: 5921983
PMID: 29719671
DOI: 10.1186/s13229-018-0205-9

[…] (EVS) and gnomAD. The missense mutation in S14 (p.Asp1672Tyr) affects a highly conserved residue and is predicted to be damaging by all algorithms used, including Polyphen-2, SIFT, PANTHER, MutPred2, Condel2, CADD, and M-CAP (Additional file : Table S3).Fig. 1We also searched the literature and ClinVar for SHANK3 mutations and assessed their pathogenicity. Variants listed in Additional file : Tabl […]

library_books

Targeted next generation sequencing of well differentiated/dedifferentiated liposarcoma reveals novel gene amplifications and mutations

2018
Oncotarget
PMCID: 5929434
PMID: 29731991
DOI: 10.18632/oncotarget.24924

[…] wild-type. In the T200/T200.1 panels, 27 mutations were detected in the 7 patients, out of which 8 genes (CTNNB1, MECOM, ZNF536, EGFR, EML4, CSMD3, PBRM1, PPP1R3A) were identified as deleterious (on Condel, PolyPhen and SIFT) and a truncating mutation was found in NF2 (). Of these, only EGFR (missense mutation; R108K aGa/aAa) and NF2 (nonsense mutation; K20* Aag/Tag) are driver mutations and the […]

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Integrative Bioinformatics Approaches for Identification of Drug Targets in Hypertension

2018
PMCID: 5894467
PMID: 29670885
DOI: 10.3389/fcvm.2018.00025

[…] g technologies. At the same time, most BP-associated variants are non-coding, making the conversion of statistical associations into target genes a great challenge. SIFT (,), PROVEAN (), PolyPhen (), CONDEL () and more recently CADD () are scoring algorithms developed for predicting the effect of amino acid changes. Only 98 out of the 905 lead BP-associated SNPs reflect a CADD score above 12.37 () […]

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Structural dynamics is a determinant of the functional significance of missense variants

2018
Proc Natl Acad Sci U S A
PMCID: 5910821
PMID: 29610305
DOI: 10.1073/pnas.1715896115

[…] Mutation Assessor; (iv) Combined Annotation Dependent Depletion; (v) SIFT; (vi) likelihood ratio test; (vii) FatHMM-U; (viii) GERP++ and (ix) phyloP, which have been developed independently; and (x) Condel and (xi) Logit, which are metapredictors that combine the predictions from PolyPhen-2, SIFT, and Mutation Assessor. Three of these tools (Mutation Taster-2, PolyPhen-2, and Mutation Assessor) h […]

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Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity

2018
PMCID: 5880258
PMID: 29449315
DOI: 10.1101/mcs.a002352

[…] ttps://research.nhgri.nih.gov/bic/). We identified potential functional impacts of variants using VEP (v. 90) with add-on packages including PolyPhen (2.2.2), SIFT (5.2.2), MetaSVM, MutationAssessor, Condel, and CADD.Somatic SNVs were annotated using ANNOVAR (). Their prior identification was checked using databases including ENSEMBL (http://www.ensembl.org), dbSNP snp150, Catalogue of Somatic Mut […]


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Condel institution(s)
Research Programme on Biomedical Informatics, Universitat Pompeu Fabra, Parc de Recerca Biomedica de Barcelona, Barcelona, Spain
Condel funding source(s)
Supported by the Spanish Ministerio de Educacion y Ciencia, grant number SAF2009-06954 and the Spanish National Institute of Bioinformatics (INB).

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