VariantAlert: A web‐based tool to notify updates in genetic variant annotations Article Swipe
Rossano Atzeni
,
Matteo Massidda
,
Giorgio Fotia
,
Paolo Uva
·
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.1002/humu.24495
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.1002/humu.24495
The reinterpretation of variants based on updated annotations is part of the routine work of research laboratories: the more data is collected about a specific variant, the higher the probability to reinterpret its classification. To support this task, we developed VariantAlert, a web-based tool to help researchers and clinicians to be constantly informed about changes in variant annotations extracted from multiple sources. VariantAlert provides daily re-annotation of variants using external resources accessed through application programming interface, such as MyVariant.info providing in turn links to gnomAD, catalogue of somatic mutations In cancer (COSMIC), ClinVar, CIViC, and many others. Researchers and clinicians can submit one or more lists of variants. If a change is detected for the annotation of a variant due to the upgrade of the underlying resource (e.g., change in gnomAD allele frequency, presence in COSMIC database, change in ClinVar classification) the user is notified by email and updated annotations are stored on the web-site. VariantAlert is freely available at https://github.com/next-crs4/VariantAlert. Installation and deployment are easy thanks to the use of the Docker platform. A Makefile allows you to easily bootstrap VariantAlert. VariantAlert is also available as a web service at https://variant-alert.crs4.it/.
Related Topics
Concepts
Annotation
Computer science
Lynch syndrome
World Wide Web
Task (project management)
Web service
Software deployment
Resource (disambiguation)
Interface (matter)
The Internet
Web application
Database
Biology
Artificial intelligence
Colorectal cancer
Genetics
Software engineering
Operating system
Cancer
Bubble
DNA mismatch repair
Management
Computer network
Maximum bubble pressure method
Economics
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1002/humu.24495
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.24495
- OA Status
- hybrid
- Cited By
- 4
- References
- 23
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4307362042
All OpenAlex metadata
Raw OpenAlex JSON
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https://openalex.org/W4307362042Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1002/humu.24495Digital Object Identifier
- Title
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VariantAlert: A web‐based tool to notify updates in genetic variant annotationsWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2022Year of publication
- Publication date
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2022-10-27Full publication date if available
- Authors
-
Rossano Atzeni, Matteo Massidda, Giorgio Fotia, Paolo UvaList of authors in order
- Landing page
-
https://doi.org/10.1002/humu.24495Publisher landing page
- PDF URL
-
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.24495Direct link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
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hybridOpen access status per OpenAlex
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.24495Direct OA link when available
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Annotation, Computer science, Lynch syndrome, World Wide Web, Task (project management), Web service, Software deployment, Resource (disambiguation), Interface (matter), The Internet, Web application, Database, Biology, Artificial intelligence, Colorectal cancer, Genetics, Software engineering, Operating system, Cancer, Bubble, DNA mismatch repair, Management, Computer network, Maximum bubble pressure method, EconomicsTop concepts (fields/topics) attached by OpenAlex
- Cited by
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4Total citation count in OpenAlex
- Citations by year (recent)
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2024: 2, 2023: 1, 2022: 1Per-year citation counts (last 5 years)
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23Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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