Decoding hidden Structural Variants in unsolved Rare Genomic Diseases

Informazioni relative al progetto

DETECT-SV-RD

ID dell’accordo di sovvenzione: 101150006

DOI

10.3030/101150006

Data della firma CE 8 Aprile 2024

Data di avvio 1 Maggio 2024

Data di completamento 30 Aprile 2026

Finanziato da

• Marie Skłodowska-Curie Actions (MSCA)

Costo totale

Nessun dato

Contributo UE

€ 187 624,32

Coordinato da

STICHTING RADBOUD UNIVERSITAIR MEDISCH CENTRUM
Netherlands

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I link ai risultati e alle pubblicazioni dei progetti del 7° PQ, così come i link ad alcuni tipi di risultati specifici come dataset e software, sono recuperati dinamicamente da .OpenAIRE .

Risultati finali

Documents, reports (1)

Communication, Dissemination & Exploitation Plan

The plan describes the planned measures to maximize the impact of the project, including the dissemination and exploitation measures that are planned, and the target group(s) addressed. Regarding communication measures and public engagement strategy, the aim is to inform and reach out to society and show the activities performed, and the use and the benefits the project will have for citizens.

Data Management Plan (1)

Data Management Plan

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.

Pubblicazioni

Peer reviewed articles (2)

Structural variation in 1,019 diverse humans based on long-read sequencing

Autori: Siegfried Schloissnig; Samarendra Pani; Jana Ebler; Carsten Hain; Vasiliki Tsapalou; Arda Söylev; Patrick Hüther; Hufsah Ashraf; Timofey Prodanov; Mila Asparuhova; Hugo Magalhães; Wolfram Höps; Jesus Emiliano Sotelo-Fonseca; Tomas Fitzgerald; Walter Santana-Garcia; Ricardo Moreira-Pinhal; Sarah Hunt; Francy J. Pérez-Llanos; Tassilo Erik Wollenweber; Sugirthan Sivalingam; Dagmar Wieczorek; Mario Cáceres; Christian Gilissen; Ewan Birney; Zhihao Ding; Jan Nygaard Jensen; Nikhil Podduturi; Jan Stutzki; Bernardo Rodriguez-Martin; Tobias Rausch; Tobias Marschall; Jan O. Korbel
Pubblicato in: Nature, 2025, ISSN 1476-4687
Editore: Nature
DOI: 10.1038/S41586-025-09290-7

HiFi long-read genomes for difficult-to-detect, clinically relevant variants

Autori: 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
Pubblicato in: The American Journal of Human Genetics, 2025, ISSN 0002-9297
Editore: Elsevier BV
DOI: 10.1016/j.ajhg.2024.12.013