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

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

doi:10.7490/f1000research.1116512.1

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Famiglietti ML, Estreicher A, 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 [version 1; not peer reviewed].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, 8:365 (poster) (https://doi.org/10.7490/f1000research.1116512.1)

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.

Maria Livia Famiglietti¹, Anne Estreicher, Lionel Breuza, Sylvain Poux, Nicole Redaschi, Ioannis Xenarios, Alan Bridge, the UniProt Consortium

Published 02 Apr 2019 (https://doi.org/10.7490/f1000research.1116512.1)

Author Affiliations

¹ Swiss Institute of Bioinformatics, Switzerland

Copyright © 2019 Famiglietti ML 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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CITE

Published 02 Apr 2019

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[version 1; not peer reviewed]

Maria Livia Famiglietti¹, Anne Estreicher, Lionel Breuza, Sylvain Poux, Nicole Redaschi, Ioannis Xenarios, Alan Bridge, the UniProt Consortium

Author Affiliations

¹ Swiss Institute of Bioinformatics, Switzerland

Presented at

The 12th International Biocuration Conference 2019

Competing Interests

No competing interests were disclosed

Keywords

UniProtKB/Swiss-Prot, manual curation, variant interpretations, ACMG guidelines

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