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Vcfanno specifications

Information


Unique identifier OMICS_11863
Name Vcfanno
Interface Web user interface
Restrictions to use None
License MIT License
Computer skills Basic
Stability Stable
Maintained Yes

Documentation


Maintainer


  • person_outline Brent Pedersen <>

Publication for Vcfanno

Vcfanno citations

 (3)
library_books

Tools for annotation and comparison of structural variation

2017
PMCID: 5668921
PMID: 29123647
DOI: 10.5256/f1000research.13552.r26608

[…] as genome features in bed or gff format. while the motivation, performance and implementation are sound, i think the authors need to compare their software to both bedtools intersect and especially¬†vcfanno given that vcfanno already provides all or nearly all of the functionality described here. in particular, vcfanno was designed to properly annotate sv events, as it takes the confidence […]

library_books

Resources for Interpreting Variants in Precision Genomic Oncology Applications

2017
PMCID: 5610688
PMID: 28975082
DOI: 10.3389/fonc.2017.00214

[…] developers of variant annotation tools have developed a standard for reporting gene-centric annotations that has simplified post-processing of variants after annotation. finally, tools such as vcfanno () have been developed that can flexibly add fields to variants in a vcf file based on relatively sophisticated logic and data transformations, reducing the number of tools required to bring […]

library_books

Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk

2017
PMCID: 5603517
PMID: 28924153
DOI: 10.1038/s41467-017-00408-8

[…] of the germline samples were also in the whole exome sequence sample set. the effect of normalized variants was annotated using dbnsfp, and population frequencies of variants were annotated using vcfanno with 1000 genomes databases. here we report only mmp20 variants found in coding regions., summary statistics of our genome-wide analysis can be downloaded from the public repository figshare […]


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Vcfanno institution(s)
Department of Human Genetics, University of Utah, Salt Lake City, UT, USA; USTAR Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA; Department of Biomedical Informatics, University of Utah, Salt Lake City, UT, USA
Vcfanno funding source(s)
This research was supported by a US National Human Genome Research Institute award (NIH R01HG006693).

Vcfanno review

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Ahmed Nabiel

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Web
An excellent tool, simply makes gemini the most flexible, yet powerful annotation and interpretation tool.
Easy to learn, fast running, with minimal resource requirements.