VariantAlert: A web-based tool to notify updates in genetic variant annotations.

Publication Year: 2022

DOI:
10.1002/humu.24495

PMCID:
PMC10091775

PMID:
36300680

Journal Information

Full Title: Hum Mutat

Abbreviation: Hum Mutat

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics, Medical

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Transparency Score
5/6
83.3% Transparent
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Core Indicators
Evidence found in paper:

"table 1 databases of annotations monitored by variantalert database url cadd a https://cadd gs washington edu/ cgi a https://www cancergenomeinterpreter org/home civic a https://civic genome wustl edu/home clinvar https://www ncbi nlm nih gov/clinvar cosmic a https://cancer sanger ac uk/cancergenome/projects/cosmic/ dbnsfp https://sites google com/site/jpopgen/dbnsfp dbsnp https://www ncbi nlm nih gov/snp/ docm a https://docm genome wustl edu/ emvclass https://www ncbi nlm nih gov/clinvar/submitters/500060/ evs https://evs gs washington edu/evs/ exac a https://exac broadinstitute org/ geno2mp a https://geno2mp gs washington edu/geno2mp/#/ gnomad https://gnomad broadinstitute org/ grasp a https://grasp nhlbi nih gov/ gwas catalog a https://www ebi ac uk/gwas/ mutdb a https://www mutdb org/ scripps wellderly a https://www stsiweb org/wellderly/ snpedia a https://www snpedia com/ uniprot https://www uniprot org/ a only available for hg19."

Evidence found in paper:

"variantalert is freely available at https://github com/next-crs4/variantalert ."

Evidence found in paper:

"CONFLICT OF INTEREST The authors declare no conflict of interest."

Evidence found in paper:

"Rossano Atzeni performed his activity in the framework of the International PhD in Innovation Sciences and Technologies at the University of Cagliari, Italy. Rossano Atzeni, Matteo Massidda and Giorgio Fotia were partially supported by the Sardinian Regional Authorities. Paolo Uva acknowledges the Italian Ministry of Health for the financial support through "Ricerca Corrente" and "5 x mille" at the IRCCS Giannina Gaslini Institute. Open access funding provided by BIBLIOSAN."

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Open Access
Paper is freely available to read
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Last Updated: Aug 05, 2025