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Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants

Crossref DOI link: https://doi.org/10.1186/s12967-020-02258-3

Published Online: 2020-02-12

Published Print: 2020-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

González-del Pozo, María

Fernández-Suárez, Elena

Martín-Sánchez, Marta

Bravo-Gil, Nereida

Méndez-Vidal, Cristina

Rodríguez-de la Rúa, Enrique

Borrego, Salud

Antiñolo, Guillermo https://orcid.org/0000-0002-2113-074X
Funding

Funding for this research was provided by:

Instituto de Salud Carlos III (PI15-01648, PI18-00612, FI19-00091)

Centro de Investigación Biomédica en Red de Enfermedades Raras (ER16P1AC702/2017)

Consejería de Economía, Innovación, Ciencia y Empleo, Junta de Andalucía (CTS-1664)

Fundación Isabel Gemio / Fundación Cajasol

Consejería de Salud, Junta de Andalucía (PEER-0501-2019)
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Article History

Received: 27 September 2019

Accepted: 5 February 2020

First Online: 12 February 2020

Ethics approval and consent to participate

: This study was conducted according to the ethical principles for medical research involving human subjects according to the Declaration of Helsinki (Edinburgh, 2000). Prior to the study, written informed consents were obtained from all participants or their legal guardians for clinical and molecular genetic studies, which was approved by the Ethical Committees of the University Hospital Virgen del Rocio (Seville) and the University Hospital Virgen Macarena (Seville).

: Consent for publication was obtained from the affected subjects of family in study.

: The authors declare that they have no competing interests.

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