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Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders

Crossref DOI link: https://doi.org/10.1186/s13023-018-0763-0

Published Online: 2018-01-26

Published Print: 2018-12

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

Authors

Komlosi, Katalin http://orcid.org/0000-0002-6076-9992
Diederich, Stefan

Fend-Guella, Desiree Lucia

Bartsch, Oliver

Winter, Jennifer

Zechner, Ulrich

Beck, Michael

Meyer, Peter

Schweiger, Susann
More Information

Article History

Received: 15 September 2017

Accepted: 8 January 2018

First Online: 26 January 2018

Ethics approval and consent to participate

: This study adheres to the principles of the Helsinki Declaration and was carried out through routine diagnostic activity; formal ethics review was therefore not requested by our institutional ethical committee for the targeted next generation sequencing. Couples undergoing further analysis gave their written informed consent for participation in the study.

: All couples provided written informed consent for genetic testing and publication of clinical and genetic data according to the German bioethics laws.

: The authors declare that they have no competing interests.

: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.