Personalized bioinformatics for global cancer susceptibility identification and clinical management

Información del proyecto

PanCanRisk

Identificador del acuerdo de subvención: 635290

DOI

10.3030/635290

Proyecto cerrado

Fecha de la firma de la CE 7 Abril 2015

Fecha de inicio 1 Julio 2015

Fecha de finalización 30 Junio 2018

Financiado con arreglo a

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

Coste total

€ 2 948 183,75

Aportación de la UE

€ 2 948 183,75

Coordinado por

FUNDACION PUBLICA GALEGA DE MEDICINA XENOMICA
Spain

CORDIS proporciona enlaces a los documentos públicos y las publicaciones de los proyectos de los programas marco HORIZONTE.

Los enlaces a los documentos y las publicaciones de los proyectos del Séptimo Programa Marco, así como los enlaces a algunos tipos de resultados específicos, como conjuntos de datos y «software», se obtienen dinámicamente de OpenAIRE .

Resultado final

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

Publicaciones

Other (4)

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

Autores: 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
Publicado en: 2017
Editor: Cold Spring Harbor Laboratory
DOI: 10.1101/208330

Assessing the Gene Regulatory Landscape in 1,188 Human Tumors

Autores: 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
Publicado en: 2019
Editor: Cold Spring Harbour Lab
DOI: 10.1101/225441

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

Autores: 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
Publicado en: 2018
Editor: Cold Spring Harbour
DOI: 10.1101/328138

Bayesian Inference Of Cancer Driver Genes Using Signatures Of Positive Selection

Autores: Susak, Hana; Zapata, Luis; Ossowski, Stephan; Estivill, Xavier; Friedlander, Marc; Drechsel, Oliver
Publicado en: Edición 1, 2017
Editor: 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

Autores: Luis Zapata, Hana Susak, Oliver Drechsel, Marc R. Friedländer, Xavier Estivill, Stephan Ossowski
Publicado en: Scientific Reports, Edición 7/1, 2017, ISSN 2045-2322
Editor: Nature Publishing Group
DOI: 10.1038/s41598-017-12888-1

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

Autores: Luis Zapata, Oriol Pich, Luis Serrano, Fyodor A. Kondrashov, Stephan Ossowski, Martin H. Schaefer
Publicado en: Genome Biology, Edición 19/1, 2018, ISSN 1474-760X
Editor: BMC
DOI: 10.1186/s13059-018-1434-0

Deep learning for computational biology

Autores: Christof Angermueller, Tanel Pärnamaa, Leopold Parts, Oliver Stegle
Publicado en: Molecular Systems Biology, Edición 12/7, 2016, Página(s) 878, ISSN 1744-4292
Editor: Nature Publishing Group
DOI: 10.15252/msb.20156651

Allele balance bias identifies systematic genotyping errors and false disease associations

Autores: Francesc Muyas, Mattia Bosio, Anna Puig, Hana Susak, Laura Domènech, Georgia Escaramis, Luis Zapata, German Demidov, Xavier Estivill, Raquel Rabionet, Stephan Ossowski
Publicado en: Human Mutation, Edición 40/1, 2019, Página(s) 115-126, ISSN 1059-7794
Editor: John Wiley & Sons Inc.
DOI: 10.1002/humu.23674