Publication:

The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification

Date

Date

Date
2021
Journal Article
Published version

Citations

Citation copied

Wagner, A. H., Babb, L., Alterovitz, G., Baudis, M., & et al. (2021). The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification. Cell Genomics, 1, 100027. https://doi.org/10.1016/j.xgen.2021.100027

Abstract

Abstract

Abstract

Maximizing the personal, public, research, and clinical value of genomic information will require the reliable exchange of genetic variation data. We report here the Variation Representation Specification (VRS, pronounced “verse”), an extensible framework for the computable representation of variation that complements contemporary human-readable and flat file standards for genomic variation representation. VRS provides semantically precise representations of variation and leverages this design to enable federated identification of bio

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35 since deposited on 2021-12-12
Acq. date: 2025-11-12

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60 since deposited on 2021-12-12
Acq. date: 2025-11-12

Additional indexing

Creators (Authors)

Journal/Series Title

Journal/Series Title

Journal/Series Title

Volume

Volume

Volume
1

Number

Number

Number
2

Page range/Item number

Page range/Item number

Page range/Item number
100027

Item Type

Item Type

Item Type
Journal Article

Dewey Decimal Classifikation

Dewey Decimal Classifikation

Dewey Decimal Classifikation

Language

Language

Language
English

Publication date

Publication date

Publication date
2021-11-10

Date available

Date available

Date available
2021-12-12

Publisher

Publisher

Publisher

ISSN or e-ISSN

ISSN or e-ISSN

ISSN or e-ISSN
2666-979X

OA Status

OA Status

OA Status
Hybrid

Free Access at

Free Access at

Free Access at
Pubmed ID

PubMed ID

PubMed ID

PubMed ID

Related URLs

Related URLs

Related URLs

Metrics

Downloads

35 since deposited on 2021-12-12
Acq. date: 2025-11-12

Views

60 since deposited on 2021-12-12
Acq. date: 2025-11-12

Citations

Citation copied

Wagner, A. H., Babb, L., Alterovitz, G., Baudis, M., & et al. (2021). The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification. Cell Genomics, 1, 100027. https://doi.org/10.1016/j.xgen.2021.100027

Hybrid Open Access
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