ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines Article Swipe
Christine G. Preston
,
Matt W. Wright
,
Rao Madhavrao
,
Steven M. Harrison
,
Jennifer Goldstein
,
Xi Luo
,
Hannah Wand
,
Bryan Wulf
,
Gloria Cheung
,
Mark E. Mandell
,
Howard Tong
,
Shaung Cheng
,
Michael A. Iacocca
,
Arturo López Pineda
,
Alice B. Popejoy
,
Karen Dalton
,
Jimmy Zhen
,
Selina S. Dwight
,
Lawrence Babb
,
Marina T. DiStefano
,
Julianne O’Daniel
,
Kristy Lee
,
Erin Rooney Riggs
,
Diane B. Zastrow
,
Jessica L. Mester
,
Deborah Ritter
,
Ronak Y. Patel
,
Sai Lakshmi Subramanian
,
Aleksander Milosavljevic
,
Jonathan S. Berg
,
Heidi L. Rehm
,
Sharon E. Plon
,
J. Michael Cherry
,
Carlos D. Bustamante
,
Helio A. Costa
·
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.1186/s13073-021-01004-8
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.1186/s13073-021-01004-8
Background Identification of clinically significant genetic alterations involved in human disease has been dramatically accelerated by developments in next-generation sequencing technologies. However, the infrastructure and accessible comprehensive curation tools necessary for analyzing an individual patient genome and interpreting genetic variants to inform healthcare management have been lacking. Results Here we present the ClinGen Variant Curation Interface (VCI), a global open-source variant classification platform for supporting the application of evidence criteria and classification of variants based on the ACMG/AMP variant classification guidelines. The VCI is among a suite of tools developed by the NIH-funded Clinical Genome Resource (ClinGen) Consortium and supports an FDA-recognized human variant curation process. Essential to this is the ability to enable collaboration and peer review across ClinGen Expert Panels supporting users in comprehensively identifying, annotating, and sharing relevant evidence while making variant pathogenicity assertions. To facilitate evidence-based improvements in human variant classification, the VCI is publicly available to the genomics community. Navigation workflows support users providing guidance to comprehensively apply the ACMG/AMP evidence criteria and document provenance for asserting variant classifications. Conclusions The VCI offers a central platform for clinical variant classification that fills a gap in the learning healthcare system, facilitates widespread adoption of standards for clinical curation, and is available at https://curation.clinicalgenome.org
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- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1186/s13073-021-01004-8
- https://genomemedicine.biomedcentral.com/counter/pdf/10.1186/s13073-021-01004-8
- OA Status
- gold
- Cited By
- 78
- References
- 33
- Related Works
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- OpenAlex ID
- https://openalex.org/W4221112641
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4221112641Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1186/s13073-021-01004-8Digital Object Identifier
- Title
-
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelinesWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2022Year of publication
- Publication date
-
2022-01-17Full publication date if available
- Authors
-
Christine G. Preston, Matt W. Wright, Rao Madhavrao, Steven M. Harrison, Jennifer Goldstein, Xi Luo, Hannah Wand, Bryan Wulf, Gloria Cheung, Mark E. Mandell, Howard Tong, Shaung Cheng, Michael A. Iacocca, Arturo López Pineda, Alice B. Popejoy, Karen Dalton, Jimmy Zhen, Selina S. Dwight, Lawrence Babb, Marina T. DiStefano, Julianne O’Daniel, Kristy Lee, Erin Rooney Riggs, Diane B. Zastrow, Jessica L. Mester, Deborah Ritter, Ronak Y. Patel, Sai Lakshmi Subramanian, Aleksander Milosavljevic, Jonathan S. Berg, Heidi L. Rehm, Sharon E. Plon, J. Michael Cherry, Carlos D. Bustamante, Helio A. CostaList of authors in order
- Landing page
-
https://doi.org/10.1186/s13073-021-01004-8Publisher landing page
- PDF URL
-
https://genomemedicine.biomedcentral.com/counter/pdf/10.1186/s13073-021-01004-8Direct link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
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https://genomemedicine.biomedcentral.com/counter/pdf/10.1186/s13073-021-01004-8Direct OA link when available
- Concepts
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Workflow, Data curation, Identification (biology), Computer science, Genomics, Interface (matter), Data science, Bioinformatics, Computational biology, Genome, Biology, Genetics, Database, Bubble, Botany, Maximum bubble pressure method, Parallel computing, GeneTop concepts (fields/topics) attached by OpenAlex
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78Total citation count in OpenAlex
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2025: 20, 2024: 25, 2023: 20, 2022: 13Per-year citation counts (last 5 years)
- References (count)
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33Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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