Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms

被引：3

作者：

Wright, Matt W. ^{[1
]}

Thaxton, Courtney L. ^{[2
]}

Nelson, Tristan ^{[3
]}

DiStefano, Marina T. ^{[4
]}

Savatt, Juliann M. ^{[3
]}

Brush, Matthew H. ^{[5
]}

Cheung, Gloria ^{[1
]}

Mandell, Mark E. ^{[1
]}

Wulf, Bryan ^{[1
]}

Ward, T. J. ^{[2
]}

Goehringer, Scott ^{[3
]}

O'Neill, Terry ^{[4
]}

Weller, Phil ^{[3
]}

Preston, Christine G. ^{[1
]}

Keseler, Ingrid M. ^{[1
]}

Goldstein, Jennifer L. ^{[2
]}

Strande, Natasha T. ^{[3
]}

Mcglaughon, Jennifer ^{[2
]}

Azzariti, Danielle R. ^{[4
]}

Cordova, Ineke ^{[3
]}

Dziadzio, Hannah ^{[4
]}

Babb, Lawrence ^{[4
]}

Riehle, Kevin ^{[6
]}

Milosavljevic, Aleksandar ^{[6
]}

Martin, Christa Lese ^{[3
]}

Rehm, Heidi L. ^{[4
]}

Plon, Sharon E. ^{[6
,7
]}

Berg, Jonathan S. ^{[2
]}

Riggs, Erin R. ^{[3
]}

Klein, Teri E. ^{[1
,8
,9
]}

机构：

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

[2] Univ North Carolina, Dept Genet, Chapel Hill, NC USA

[3] Geisinger, Danville, PA USA

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

[5] Univ Colorado, Dept Biomed Informat, Anschutz Med Campus, Aurora, CO USA

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

[7] Baylor Coll Med, Dept Pediat, Div Hematol Oncol, Houston, TX USA

[8] Stanford Univ, Sch Med, Dept Med Biomed Informat Res, Stanford, CA USA

[9] Stanford Univ, Sch Med, Dept Genet, Stanford, CA USA

来源：

ANNUAL REVIEW OF BIOMEDICAL DATA SCIENCE | 2024年 / 7卷

基金：

美国国家卫生研究院;

关键词：

biocuration; precision medicine; clinical genetics; data standards; research informatics; data; harmonization; SEQUENCE VARIANTS;

D O I：

10.1146/annurev-biodatasci-102423-112456

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Clinical genetic laboratories must have access to clinically validated biomedical data for precision medicine. A lack of accessibility, normalized structure, and consistency in evaluation complicates interpretation of disease causality, resulting in confusion in assessing the clinical validity of genes and genetic variants for diagnosis. A key goal of the Clinical Genome Resource (ClinGen) is to fill the knowledge gap concerning the strength of evidence supporting the role of a gene in a mono genic disease, which is achieved through a process known as Gene-Disease Validity curation. Here we review the work of ClinGen in developing a curation infrastructure that supports the standardization, harmonization, and dissemination of Gene-Disease Validity data through the creation frameworks and the utilization of common data standards. This infrastructure is based on several applications, including the ClinGen GeneTracker, Gene Curation Interface, Data Exchange, GeneGraph, and website.

引用

页码：31 / 50

页数：20

共 17 条

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Dalton, Karen P.
Rehm, Heidi L.
Wright, Matt W.
Mandell, Mark E.
Krysiak, Kilannin
Babb, Lawrence
Riehle, Kevin
Nelson, Tristan
Wagner, Alex H.
BIOCOMPUTING 2023, PSB 2023, 2023, : 531 - 535
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DiStefano, Marina T.
Hemphill, Sarah E.
Oza, Andrea M.
Siegert, Rebecca K.
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Cushman, Brandon J.
Azaiez, Hela
Booth, Kevin T.
Chapin, Alex
Duzkale, Hatice
Matsunaga, Tatsuo
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Zhang, Wenying
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Bai, Donglin
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Bylstra, Yasmin
del Castillo, Ignacio
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GENETICS IN MEDICINE, 2019, 21 (10) : 2239 - 2247
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Wongboonsin, Janewit
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JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2024, 35 (10):
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GENETICS IN MEDICINE, 2019, 21 (10) : 2409 - 2409
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GENETICS IN MEDICINE, 2025, 27 (05)
[9] Evaluating the clinical validity of gene-disease relationships in inherited ocular conditions
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Souzeau, Emmanuelle
Wiggs, Janey L.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2024, 65 (07)
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