CGEN specifications

Information


Unique identifier OMICS_02089
Name CGEN
Alternative name Clinical GENetics
Software type Package/Module
Interface Command line interface
Restrictions to use None
Operating system Unix/Linux, Mac OS, Windows
Programming languages R
License GNU General Public License version 2.0
Computer skills Advanced
Version 3.12.1
Stability Stable
Requirements survival, mvtnorm
Maintained Yes

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Documentation


Maintainer


  • person_outline Bill Wheeler <>

CGEN citation

2017
PMCID: 5219735

[…] in abca4 was found. after a comprehensive analysis of coding regions and gene rearrangements a second allele was not found., further, and after the re-assessment of the patient on his appointment at clinical genetics, cdh3 (nm_001793.5 refseq) sequencing allowed to detect compound heterozygous variants: a novel maternal missense change c.613g > a; p.val205met, predicted as probably pathogenic […]

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