Condel pipeline

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 IN pipeline

2016
PMCID: 5545709
PMID: 27404287
DOI: 10.1038/tp.2016.120

[…] was performed using bwa.46 gatk47 was used for variant calling and annovar48 for functional annotation. rare mutations predicted deleterious (loss of function or missense predicted damaging with the condel program49) were selected. we also analyzed exome data of asd patients available from dbgap (accession=phs000482.v1.p1 and phs000298.v1.p1; n=931) in order to define the number of deleterious […]

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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