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CORDIS - EU research results
CORDIS

Decoding hidden Structural Variants in unsolved Rare Genomic Diseases

CORDIS provides links to public deliverables and publications of HORIZON projects.

Links to deliverables and publications from FP7 projects, as well as links to some specific result types such as dataset and software, are dynamically retrieved from OpenAIRE .

Deliverables

Data Management Plan (opens in new window)

The Data Management Plan describes the data management life cycle for all data sets that will be collected, processed or generated by the action. It is a document describing what data will be collected, processed or generated and following what methodology and standards, whether and how this data will be shared and/or made open, and how it will be curated and preserved.

Publications

HiFi long-read genomes for difficult-to-detect, clinically relevant variants (opens in new window)

Author(s): Wolfram Höps, Marjan M. Weiss, Ronny Derks, Jordi Corominas Galbany, Amber den Ouden, Simone van den Heuvel, Raoul Timmermans, Jos Smits, Tom Mokveld, Egor Dolzhenko, Xiao Chen, Arthur van den Wijngaard, Michael A. Eberle, Helger G. Yntema, Alexander Hoischen, Christian Gilissen, Lisenka E.L.M. Vissers
Published in: The American Journal of Human Genetics, 2025, ISSN 0002-9297
Publisher: Elsevier BV
DOI: 10.1016/j.ajhg.2024.12.013

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