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dc.contributor.author | Bosio, Mattia |
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dc.contributor.author | Drechsel, Oliver |
dc.contributor.author | Rahman, Rubayte |
dc.contributor.author | Muyas, Francesc |
dc.contributor.author | Rabionet, Raquel |
dc.contributor.author | Bezdan, Daniela |
dc.contributor.author | Domenech Salgado, Laura |
dc.contributor.author | Hor, Hyun |
dc.contributor.author | Schott, Jean-Jacques |
dc.contributor.author | Munell, Francina |
dc.contributor.author | Colobran, Roger |
dc.contributor.author | Macaya, Alfons |
dc.contributor.author | Estivill, Xavier, 1955- |
dc.contributor.author | Ossowski, Stephan |
dc.date | 2019 |
dc.identifier.citation | Bosio M, Drechsel O, Rahman R, Muyas F, Rabionet R, Bezdan D, Domenech Salgado L, Hor H, Schott JJ, Munell F, Colobran R, Macaya A, Estivill X, Ossowski S. eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics. Hum Mutat. 2019; 40(7):865-878. DOI 10.1002/humu.23772 |
dc.identifier.citation | 1059-7794 |
dc.identifier.citation | http://dx.doi.org/10.1002/humu.23772 |
dc.identifier.uri | http://hdl.handle.net/10230/42370 |
dc.format | application/pdf |
dc.language.iso | eng |
dc.publisher | Wiley |
dc.relation | Hum Mutat. 2019; 40(7):865-878 |
dc.relation | info:eu-repo/grantAgreement/EC/H2020/635290 |
dc.rights | © 2019 The Authors Human Mutation Published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
dc.rights | info:eu-repo/semantics/openAccess |
dc.rights | http://creativecommons.org/licenses/by/4.0/ |
dc.subject | Disease variant prioritization |
dc.subject | Machine learning |
dc.subject | NGS diagnostics |
dc.subject | Rare genetic disease |
dc.subject | Whole-exome sequencing |
dc.title | eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics |
dc.type | info:eu-repo/semantics/article |
dc.type | info:eu-repo/semantics/publishedVersion |
dc.description.abstract | |
dc.description.abstract |