<p>An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar</p>

Anne Estreicher; Maria Livia Famiglietti; Lionel Breuza; Sylvain Poux; Nicole Redaschi; Ioannis Xenarios; Alan Bridge; UniProt Consortium

doi:10.7490/f1000research.1117368.1

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Estreicher A, Famiglietti ML, Breuza L et al. An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar [version 1; not peer reviewed]. F1000Research 2019, 8(ISCB Comm J):1461 (poster) (https://doi.org/10.7490/f1000research.1117368.1)

NOTE: it is important to ensure the information in square brackets after the title is included in this citation.

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar

Anne Estreicher¹, Maria Livia Famiglietti, Lionel Breuza, Sylvain Poux, Nicole Redaschi, Ioannis Xenarios, Alan Bridge, UniProt Consortium

Published 19 Aug 2019 (https://doi.org/10.7490/f1000research.1117368.1)

Author Affiliations

¹ SIB Swiss Institute of Bioinformatics, Switzerland

Copyright © 2019 Estreicher A et al. This is an open access work distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Published 19 Aug 2019

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar
[version 1; not peer reviewed]

Anne Estreicher¹, Maria Livia Famiglietti, Lionel Breuza, Sylvain Poux, Nicole Redaschi, Ioannis Xenarios, Alan Bridge, UniProt Consortium

Author Affiliations

¹ SIB Swiss Institute of Bioinformatics, Switzerland

Presented at

ISMB/ECCB 2019

Abstract

Competing Interests

No competing interests were disclosed

Keywords

UniProtKB/Swiss-Prot, ACMG guidelines, genetic variants, manual curation, ClinVar

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