Accessing clinical-grade genomic classification data through the ClinGen Data Platform

Karen P. Dalton; Heidi L. Rehm; Matt W. Wright; Mark E. Mandell; Kilannin Krysiak; Lawrence Babb; Kevin Riehle; Tristan Nelson; Alex H. Wagner

doi:10.1142/9789811270611_0048

Accessing clinical-grade genomic classification data through the ClinGen Data Platform

Karen P. Dalton
, Heidi L. Rehm
, Matt W. Wright
, Mark E. Mandell
, Kilannin Krysiak
, Lawrence Babb
, Kevin Riehle
, Tristan Nelson
, Alex H. Wagner

Research output: Chapter in Book/Report/Conference proceeding › Conference contribution › peer-review

2 Scopus citations

Abstract

The Clinical Genome Resource (ClinGen) serves as an authoritative resource on the clinical relevance of genes and variants. In order to support our curation activities and to disseminate our findings to the community, we have developed a Data Platform of informatics resources backed by standardized data models. In this workshop we demonstrate our publicly available resources including curation interfaces, (Variant Curation Interface, CIViC), supporting infrastructure (Allele Registry, Genegraph), and data models (SEPIO, GA4GH VRS, VA).

Original language	English
Title of host publication	Pacific Symposium on Biocomputing, PSB 2023
Editors	Russ B. Altman, Lawrence Hunter, Marylyn D. Ritchie, Tiffany Murray, Teri E. Klein
Publisher	World Scientific
Pages	531-535
Number of pages	5
Edition	2023
ISBN (Electronic)	9789811270604
DOIs	https://doi.org/10.1142/9789811270611_0048
State	Published - 2023
Event	28th Pacific Symposium on Biocomputing, PSB 2023 - Kohala Coast, United States Duration: Jan 3 2023 → Jan 7 2023

Conference

Conference	28th Pacific Symposium on Biocomputing, PSB 2023
Country/Territory	United States
City	Kohala Coast
Period	01/3/23 → 01/7/23

Keywords

ClinGen
Clinical Genomics
Data Standards
GA4GH
Variant Interpretation

Access to Document

10.1142/9789811270611_0048

Cite this

Dalton, K. P., Rehm, H. L., Wright, M. W., Mandell, M. E., Krysiak, K., Babb, L., Riehle, K., Nelson, T., & Wagner, A. H. (2023). Accessing clinical-grade genomic classification data through the ClinGen Data Platform. In R. B. Altman, L. Hunter, M. D. Ritchie, T. Murray, & T. E. Klein (Eds.), Pacific Symposium on Biocomputing, PSB 2023 (2023 ed., pp. 531-535). World Scientific. https://doi.org/10.1142/9789811270611_0048

@inproceedings{541d5f9ad5ac4768bab5cc467e241fab,

title = "Accessing clinical-grade genomic classification data through the ClinGen Data Platform",

abstract = "The Clinical Genome Resource (ClinGen) serves as an authoritative resource on the clinical relevance of genes and variants. In order to support our curation activities and to disseminate our findings to the community, we have developed a Data Platform of informatics resources backed by standardized data models. In this workshop we demonstrate our publicly available resources including curation interfaces, (Variant Curation Interface, CIViC), supporting infrastructure (Allele Registry, Genegraph), and data models (SEPIO, GA4GH VRS, VA).",

keywords = "ClinGen, Clinical Genomics, Data Standards, GA4GH, Variant Interpretation",

author = "Dalton, \{Karen P.\} and Rehm, \{Heidi L.\} and Wright, \{Matt W.\} and Mandell, \{Mark E.\} and Kilannin Krysiak and Lawrence Babb and Kevin Riehle and Tristan Nelson and Wagner, \{Alex H.\}",

note = "Publisher Copyright: {\textcopyright} 2022 The Authors.; 28th Pacific Symposium on Biocomputing, PSB 2023 ; Conference date: 03-01-2023 Through 07-01-2023",

year = "2023",

doi = "10.1142/9789811270611\_0048",

language = "English",

pages = "531--535",

editor = "Altman, \{Russ B.\} and Lawrence Hunter and Ritchie, \{Marylyn D.\} and Tiffany Murray and Klein, \{Teri E.\}",

booktitle = "Pacific Symposium on Biocomputing, PSB 2023",

publisher = "World Scientific",

edition = "2023",

}

Dalton, KP, Rehm, HL, Wright, MW, Mandell, ME, Krysiak, K, Babb, L, Riehle, K, Nelson, T & Wagner, AH 2023, Accessing clinical-grade genomic classification data through the ClinGen Data Platform. in RB Altman, L Hunter, MD Ritchie, T Murray & TE Klein (eds), Pacific Symposium on Biocomputing, PSB 2023. 2023 edn, World Scientific, pp. 531-535, 28th Pacific Symposium on Biocomputing, PSB 2023, Kohala Coast, United States, 01/3/23. https://doi.org/10.1142/9789811270611_0048

Accessing clinical-grade genomic classification data through the ClinGen Data Platform. / Dalton, Karen P.; Rehm, Heidi L.; Wright, Matt W. et al.
Pacific Symposium on Biocomputing, PSB 2023. ed. / Russ B. Altman; Lawrence Hunter; Marylyn D. Ritchie; Tiffany Murray; Teri E. Klein. 2023. ed. World Scientific, 2023. p. 531-535.

Research output: Chapter in Book/Report/Conference proceeding › Conference contribution › peer-review

TY - GEN

T1 - Accessing clinical-grade genomic classification data through the ClinGen Data Platform

AU - Dalton, Karen P.

AU - Rehm, Heidi L.

AU - Wright, Matt W.

AU - Mandell, Mark E.

AU - Krysiak, Kilannin

AU - Babb, Lawrence

AU - Riehle, Kevin

AU - Nelson, Tristan

AU - Wagner, Alex H.

PY - 2023

Y1 - 2023

N2 - The Clinical Genome Resource (ClinGen) serves as an authoritative resource on the clinical relevance of genes and variants. In order to support our curation activities and to disseminate our findings to the community, we have developed a Data Platform of informatics resources backed by standardized data models. In this workshop we demonstrate our publicly available resources including curation interfaces, (Variant Curation Interface, CIViC), supporting infrastructure (Allele Registry, Genegraph), and data models (SEPIO, GA4GH VRS, VA).

AB - The Clinical Genome Resource (ClinGen) serves as an authoritative resource on the clinical relevance of genes and variants. In order to support our curation activities and to disseminate our findings to the community, we have developed a Data Platform of informatics resources backed by standardized data models. In this workshop we demonstrate our publicly available resources including curation interfaces, (Variant Curation Interface, CIViC), supporting infrastructure (Allele Registry, Genegraph), and data models (SEPIO, GA4GH VRS, VA).

KW - ClinGen

KW - Clinical Genomics

KW - Data Standards

KW - GA4GH

KW - Variant Interpretation

UR - https://www.scopus.com/pages/publications/85144311192

U2 - 10.1142/9789811270611_0048

DO - 10.1142/9789811270611_0048

M3 - Conference contribution

C2 - 36541006

AN - SCOPUS:85144311192

SP - 531

EP - 535

BT - Pacific Symposium on Biocomputing, PSB 2023

A2 - Altman, Russ B.

A2 - Hunter, Lawrence

A2 - Ritchie, Marylyn D.

A2 - Murray, Tiffany

A2 - Klein, Teri E.

PB - World Scientific

T2 - 28th Pacific Symposium on Biocomputing, PSB 2023

Y2 - 3 January 2023 through 7 January 2023

ER -

Accessing clinical-grade genomic classification data through the ClinGen Data Platform

Abstract

Conference

Keywords

Access to Document

Other files and links

Fingerprint

Cite this