<p>Rare Disease Service Bundle – Assessing Molecular Pathogenicity for Rare Diseases (AMP4RD)</p>

Emidio Capriotti; David Salgado; Sergi Beltran Agullo; Rita Casadio; Angelo Facchiano; Luana Licata; Anna Marabotti; Pier Luigi Martelli; Lesley Matalogna Borrel; Pablo Porras Millan; Gary Saunders; Castrense Savojardo; Tartari Giacomo

doi:10.7490/f1000research.1117965.1

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Capriotti E, Salgado D, Beltran Agullo S et al. Rare Disease Service Bundle – Assessing Molecular Pathogenicity for Rare Diseases (AMP4RD) [version 1; not peer reviewed]. F1000Research 2020, 9(ELIXIR):526 (poster) (https://doi.org/10.7490/f1000research.1117965.1)

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

Rare Disease Service Bundle – Assessing Molecular Pathogenicity for Rare Diseases (AMP4RD)

Emidio Capriotti¹, David Salgado², Sergi Beltran Agullo, Rita Casadio, Angelo Facchiano, Luana Licata, Anna Marabotti, Pier Luigi Martelli, Lesley Matalogna Borrel, Pablo Porras Millan, Gary Saunders, Castrense Savojardo, Tartari Giacomo

Published 05 Jun 2020 (https://doi.org/10.7490/f1000research.1117965.1)

Author Affiliations

¹ University of Bologna, Italy
² Université d'Aix-Marseille, France

Copyright © 2020 Capriotti E 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 05 Jun 2020

Rare Disease Service Bundle – Assessing Molecular Pathogenicity for Rare Diseases (AMP4RD)
[version 1; not peer reviewed]

Author Affiliations

¹ University of Bologna, Italy
² Université d'Aix-Marseille, France

Presented at

ELIXIR All Hands 2020

Abstract

Competing Interests

No competing interests were disclosed

Keywords

Genetic Variant, Varaint Interpretation, Variant Annotation, Pathogenic Variant, Rare Disease

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