CNVannotator specifications

Information


Unique identifier OMICS_02606
Name CNVannotator
Interface Web user interface
Restrictions to use None
Computer skills Basic
Stability Stable
Maintained Yes

Taxon


  • Primates
    • Homo sapiens

Maintainer


  • person_outline Zhongming Zhao <>

Publication for CNVannotator

CNVannotator in publications

 (2)
PMCID: 4706066
PMID: 26834999
DOI: 10.5256/f1000research.7870.r11114

[…] by filtering out any region common to cnvs and lohs detected in its matched control. somatic cnvs and lohs were further filtered with respect to common and disease-related cnvs and lohs using cnvannotator . overlaps with common cnvs and lohs were discarded, reporting only the overlaps with disease-related, and novel cnvs and lohs. we categorized the cnvs and lohs within each cytoband […]

PMCID: 4996380
PMID: 27600231
DOI: 10.3390/microarrays4030407

[…] platforms, a significant informatics challenge exists for interpreting both the functional and clinical role of these variants. computational tools, such as sg-adviser cnv [], cnv-webstore [] and cnvannotator [], have been developed to derive functional effects from predicted variants. these tools are useful for assigning potential clinical implications of cnvs based on their location within […]


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CNVannotator institution(s)
Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN, USA; Department of Cancer Biology, Vanderbilt University School of Medicine, Nashville, TN, USA; Department of Psychiatry, Vanderbilt University School of Medicine, Nashville, TN, USA; Center for Quantitative Sciences, Vanderbilt University Medical Center, Nashville, TN, USA
CNVannotator funding source(s)
Supported by grants from National Institutes of Health (R01LM011177, R21HG006037, R03CA167695, P30CA68485, and P50CA095103), The Robert J. Kleberg, Jr. and Helen C. Kleberg Foundation (to ZZ), and Ingram Professorship Funds.

CNVannotator reviews

 (5)
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Tommaso Mazza

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Web
I suggest InCAS (Integrated Copy number Annotation System), presented this year at the Human Genetics Conference (ESHG2018).
http://incas.css-mendel.it/

I.J. Nijman

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Web
Seems to have a new URL:
https://bioinfo.uth.edu/CNVannotator/

However, as reported before, I also do not get reports reliably.

The tool has great promises; addition of an API would be fantastic!