<p>Functional variant prioritization in rare diseases using a mechanistic approach</p>

Ana M. Pérez-Gutiérrez; Rosario  Carmona; Virginia Aquino-Quintans; Javier Pérez-Florido; María Peña-Chilet; Joaquín  Dopazo

doi:10.7490/f1000research.1117737.1

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Pérez-Gutiérrez AM, Carmona R, Aquino-Quintans V et al. Functional variant prioritization in rare diseases using a mechanistic approach [version 1; not peer reviewed]. F1000Research 2019, 8(ISCB Comm J):2047 (poster) (https://doi.org/10.7490/f1000research.1117737.1)

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Functional variant prioritization in rare diseases using a mechanistic approach

Ana M. Pérez-Gutiérrez¹, Rosario Carmona¹, Virginia Aquino-Quintans, Javier Pérez-Florido, María Peña-Chilet¹, Joaquín Dopazo¹

Published 03 Dec 2019 (https://doi.org/10.7490/f1000research.1117737.1)

Author Affiliations

¹ Clinical Bioinformatics Area, FPS, Spain

Copyright © 2019 Pérez-Gutiérrez AM 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 03 Dec 2019

Functional variant prioritization in rare diseases using a mechanistic approach
[version 1; not peer reviewed]

Ana M. Pérez-Gutiérrez¹, Rosario Carmona¹, Virginia Aquino-Quintans, Javier Pérez-Florido, María Peña-Chilet¹, Joaquín Dopazo¹

Author Affiliations

¹ Clinical Bioinformatics Area, FPS, Spain

Presented at

Advances in Computational Biology Conference 2019

Competing Interests

No competing interests were disclosed

Keywords

mechanistic model, functional annotation, variant prioritization, genomic variation, mental and behavioural disorders

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