Personalized bioinformatics for global cancer susceptibility identification and clinical management

Informazioni relative al progetto

PanCanRisk

ID dell’accordo di sovvenzione: 635290

DOI

10.3030/635290

Progetto chiuso

Data della firma CE 7 Aprile 2015

Data di avvio 1 Luglio 2015

Data di completamento 30 Giugno 2018

Finanziato da

• SOCIETAL CHALLENGES - Health, demographic change and well-being

Costo totale

€ 2 948 183,75

Contributo UE

€ 2 948 183,75

Coordinato da

FUNDACION PUBLICA GALEGA DE MEDICINA XENOMICA
Spain

CORDIS fornisce collegamenti ai risultati finali pubblici e alle pubblicazioni dei progetti ORIZZONTE.

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

Demonstrators, pilots, prototypes (3)

Cloud installation of the eDiVA

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

eDiVA

A 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 prediction

Release of improved version of open-source software for indel and CNV prediction (ClinDel, ClinCNV, PeSV-Fisher) Note: Month 30 (tentative)

Websites, patent fillings, videos etc. (2)

Material for dissemination and information purposes

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)

Website

Project website online

Documents, reports (3)

Project’s agendas, minutes and all documents related to the organization and running of the meetings of the consortium
Revision of ethical guidelines

Revision of ethical guidelines for the PanCanRisk

Internal satisfaction surveys and “Lessons Learned” document

Pubblicazioni

Other (4)

Germline determinants of the somatic mutation landscape in 2,642 cancer genomes

Autori: 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
Pubblicato in: 2017
Editore: Cold Spring Harbor Laboratory
DOI: 10.1101/208330

Assessing the Gene Regulatory Landscape in 1,188 Human Tumors

Autori: 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
Pubblicato in: 2019
Editore: Cold Spring Harbour Lab
DOI: 10.1101/225441

Combined single cell profiling of expression and DNA methylation reveals splicing regulation and heterogeneity

Autori: 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
Pubblicato in: 2018
Editore: Cold Spring Harbour
DOI: 10.1101/328138

Bayesian Inference Of Cancer Driver Genes Using Signatures Of Positive Selection

Autori: Susak, Hana; Zapata, Luis; Ossowski, Stephan; Estivill, Xavier; Friedlander, Marc; Drechsel, Oliver
Pubblicato in: Numero 1, 2017
Editore: Cold Spring Harbor Laboratory
DOI: 10.1101/059360

Peer reviewed articles (4)

Signatures of positive selection reveal a universal role of chromatin modifiers as cancer driver genes

Autori: Luis Zapata, Hana Susak, Oliver Drechsel, Marc R. Friedländer, Xavier Estivill, Stephan Ossowski
Pubblicato in: Scientific Reports, Numero 7/1, 2017, ISSN 2045-2322
Editore: Nature Publishing Group
DOI: 10.1038/s41598-017-12888-1

Negative selection in tumor genome evolution acts on essential cellular functions and the immunopeptidome

Autori: Luis Zapata, Oriol Pich, Luis Serrano, Fyodor A. Kondrashov, Stephan Ossowski, Martin H. Schaefer
Pubblicato in: Genome Biology, Numero 19/1, 2018, ISSN 1474-760X
Editore: BMC
DOI: 10.1186/s13059-018-1434-0

Deep learning for computational biology

Autori: Christof Angermueller, Tanel Pärnamaa, Leopold Parts, Oliver Stegle
Pubblicato in: Molecular Systems Biology, Numero 12/7, 2016, Pagina/e 878, ISSN 1744-4292
Editore: Nature Publishing Group
DOI: 10.15252/msb.20156651

Allele balance bias identifies systematic genotyping errors and false disease associations

Autori: Francesc Muyas, Mattia Bosio, Anna Puig, Hana Susak, Laura Domènech, Georgia Escaramis, Luis Zapata, German Demidov, Xavier Estivill, Raquel Rabionet, Stephan Ossowski
Pubblicato in: Human Mutation, Numero 40/1, 2019, Pagina/e 115-126, ISSN 1059-7794
Editore: John Wiley & Sons Inc.
DOI: 10.1002/humu.23674