Deliverables
Proof-of-concept cloud installation of the eDiVA platform optimized for NGS-based diagnostics in the clinics, with a specific focus on MGTS analysis for cancer risk diagnostics, intuitively accessible interfaces and data views as well as restricted access and data security
eDiVAA specialised version of the eDiVA NGS analysis platform optimized for distributed analysis of germline variation in large-scale cancer studies
Open-source software for indel and CNV predictionRelease of improved version of open-source software for indel and CNV prediction (ClinDel, ClinCNV, PeSV-Fisher) Note: Month 30 (tentative)
Material for dissemination and information purposes (power point presentations, posters, flyers; others) to be presented at international conferences/ events/ workshops (these will be repeated tasks, months 18 and 24)
WebsiteProject website online
Publications
Author(s):
Sebastian M. Waszak, Grace Tiao, Bin Zhu, Tobias Rausch, Francesc Muyas, Bernardo Rodriguez-Martin, Raquel Rabionet, Sergei Yakneen, Georgia Escaramis, Yilong Li, Natalie Saini, Steven A. Roberts, German M. Demidov, Esa Pitkanen, Olivier Delaneau, Jose M. Heredia-Genestar, Joachim Weischenfeldt, Suyash S. Shringarpure, Jieming Chen, Hidewaki Nakagawa, Ludmil B. Alexandrov, Oliver Drechsel, L. Jona
Published in:
2017
Publisher:
Cold Spring Harbor Laboratory
DOI:
10.1101/208330
Author(s):
Claudia Calabrese,
Kjong-Van Lehmann,
Lara Urban, Fenglin Liu, Serap Erkek,
Nuno Fonseca,
Andre Kahles,
Leena Helena Kilpinen-Barrett,
Julia Markowski, PCAWG-3,
Sebastian Waszak,
Jan Korbel,
Zemin Zhang,
Alvis Brazma,
Gunnar Raetsch,
Roland Schwarz,
Oliver Stegle
Published in:
2019
Publisher:
Cold Spring Harbour Lab
DOI:
10.1101/225441
Author(s):
Stephanie Maria Linker, View ORCID ProfileLara Urban, View ORCID ProfileStephen Clark, Mariya Chhatriwala, Shradha Amatya, View ORCID ProfileDavis McCarthy, View ORCID ProfileIngo Ebersberger, View ORCID ProfileLudovic Vallier, View ORCID ProfileWolf Reik, View ORCID ProfileOliver Stegle, View ORCID ProfileMarc Jan Bonder
Published in:
2018
Publisher:
Cold Spring Harbour
DOI:
10.1101/328138
Author(s):
Susak, Hana; Zapata, Luis; Ossowski, Stephan; Estivill, Xavier; Friedlander, Marc; Drechsel, Oliver
Published in:
Issue 1, 2017
Publisher:
Cold Spring Harbor Laboratory
DOI:
10.1101/059360
Author(s):
Luis Zapata, Hana Susak, Oliver Drechsel, Marc R. Friedländer, Xavier Estivill, Stephan Ossowski
Published in:
Scientific Reports, Issue 7/1, 2017, ISSN 2045-2322
Publisher:
Nature Publishing Group
DOI:
10.1038/s41598-017-12888-1
Author(s):
Luis Zapata, Oriol Pich, Luis Serrano, Fyodor A. Kondrashov, Stephan Ossowski, Martin H. Schaefer
Published in:
Genome Biology, Issue 19/1, 2018, ISSN 1474-760X
Publisher:
BMC
DOI:
10.1186/s13059-018-1434-0
Author(s):
Christof Angermueller, Tanel Pärnamaa, Leopold Parts, Oliver Stegle
Published in:
Molecular Systems Biology, Issue 12/7, 2016, Page(s) 878, ISSN 1744-4292
Publisher:
Nature Publishing Group
DOI:
10.15252/msb.20156651
Author(s):
Francesc Muyas, Mattia Bosio, Anna Puig, Hana Susak, Laura Domènech, Georgia Escaramis, Luis Zapata, German Demidov, Xavier Estivill, Raquel Rabionet, Stephan Ossowski
Published in:
Human Mutation, Issue 40/1, 2019, Page(s) 115-126, ISSN 1059-7794
Publisher:
John Wiley & Sons Inc.
DOI:
10.1002/humu.23674
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