ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

被引：45

作者：

Preston, Christine G. ^{[1
]}

Wright, Matt W. ^{[1
]}

Madhavrao, Rao ^{[1
]}

Harrison, Steven M. ^{[2
]}

Goldstein, Jennifer L. ^{[3
]}

Luo, Xi ^{[4
]}

Wand, Hannah ^{[5
]}

Wulf, Bryan ^{[1
]}

Cheung, Gloria ^{[1
]}

Mandell, Mark E. ^{[1
]}

Tong, Howard ^{[1
]}

Cheng, Shaung ^{[1
]}

Iacocca, Michael A. ^{[1
]}

Pineda, Arturo Lopez ^{[6
]}

Popejoy, Alice B. ^{[6
]}

Dalton, Karen ^{[7
]}

Zhen, Jimmy ^{[7
]}

Dwight, Selina S. ^{[8
]}

Babb, Lawrence ^{[2
]}

DiStefano, Marina ^{[2
]}

O'Daniel, Julianne M. ^{[3
]}

Lee, Kristy ^{[3
]}

Riggs, Erin R. ^{[9
]}

Zastrow, Diane B. ^{[10
]}

Mester, Jessica L. ^{[11
]}

Ritter, Deborah I. ^{[4
]}

Patel, Ronak Y. ^{[12
]}

Subramanian, Sai Lakshmi ^{[12
]}

Milosavljevic, Aleksander ^{[12
]}

Berg, Jonathan S. ^{[3
]}

Rehm, Heidi L. ^{[2
,13
]}

Plon, Sharon E. ^{[4
,12
]}

Cherry, J. Michael ^{[14
]}

Bustamante, Carlos D. ^{[6
,14
]}

Costa, Helio A. ^{[1
,6
]}

机构：

[1] Stanford Univ, Dept Pathol, Sch Med, 300 Pasteur Dr, MSOB x313, Stanford, CA 94305 USA

[2] Broad Inst MIT & Harvard, Med & Populat Genet, Cambridge, MA 02142 USA

[3] Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA

[4] Baylor Coll Med, Dept Pediat Hematol Oncol, Houston, TX 77030 USA

[5] Stanford Hlth Care, Ctr Inherited Cardiovasc Dis, Stanford, CA 94305 USA

[6] Stanford Univ, Dept Biomed Data Sci, Sch Med, Stanford, CA 94305 USA

[7] Stanford Univ, Dept Med, Sch Med, Stanford, CA 94305 USA

[8] Grace Sci LLC, Menlo Pk, CA 94025 USA

[9] Geisinger Hlth Syst, Autism & Dev Med Inst, Lewisburg, PA 17837 USA

[10] Sutter Hlth, Mountain View, CA 94040 USA

[11] GeneDx Inc, Gaithersburg, MD 20877 USA

[12] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[13] Massachusetts Gen Hosp, Ctr Gen Med, Boston, MA 02114 USA

[14] Stanford Univ, Dept Genet, Sch Med, Stanford, CA 94305 USA

来源：

GENOME MEDICINE | 2022年 / 14卷 / 01期

基金：

美国国家卫生研究院;

关键词：

Variant curation; Precision medicine; Clinical genetics; Clinical Genome Resource Consortium; RECOMMENDATIONS; SPECIFICATION;

D O I：

10.1186/s13073-021-01004-8

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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

引用

页数：12

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