PanCanRisk
Financiado
Personalized bioinformatics for global cancer susceptibility identification and...
Personalized bioinformatics for global cancer susceptibility identification and clinical management
Cancer sequencing studies have extensively investigated the landscape of somatic mutations that drive tumor development, however the importance of germline variation for cancer susceptibility has been neglected. We hypothesize tha...
Cancer sequencing studies have extensively investigated the landscape of somatic mutations that drive tumor development, however the importance of germline variation for cancer susceptibility has been neglected. We hypothesize that for cancer types affecting a large proportion of the population, a shared set of genes with variants of different levels of penetrance leads to the clinical phenotype. While rare germline variants are not interrogated by array-based genome-wide association studies (GWAS), these can be effectively studied by whole-genome or whole-exome sequencing. Here, we propose in-depth pan-cancer analyses, which will be implemented as part of the International Cancer Genome Consortium (ICGC) initiative, as a model to develop and apply the necessary bioinformatics tools and pipelines to fully exploit the cancer-genome datasets, and to harness the diagnostic power of genome sequencing in day-to-day clinical practice. Our proposal addresses the full chain of computational and statistical tools that are needed for clinically relevant diagnosis and intervention, including discovery in large cohorts, validation of putative causal sites in model systems and development of targeted cancer-risk panels. The consortium combines complementary expertise to extend the computational discovery of novel variants that influence cancer susceptibility to intergenic and regulatory variants; to integrate genomic, molecular phenotype, biomarker and clinical data; and to develop novel statistical methods for variant association and eQTL analysis. The project will deal with essential aspects on how data are collected, stored, organized, integrated, analyzed and exploited in cancer genetic clinics. We aim to provide a concerted, cross-disciplinary framework for a better understanding, integration and use of cancer clinical data in the evaluation of the multitude of genetic variants and mutations involved in cancer susceptibility, for the direct benefit of cancer patients.
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Duración del proyecto: 38 meses
Fecha Inicio: 2015-04-07
Fecha Fin: 2018-06-30
Fecha Fin: 2018-06-30
Línea de financiación: concedida
El organismo H2020 notifico la concesión del proyecto el día 2018-06-30
Línea de financiación objetivo
El proyecto se financió a través de la siguiente ayuda:
PHC-32-2014:
Advancing bioinformatics to meet biomedical and clinical needs
Cerrada
hace 10 años
Presupuesto
El presupuesto total del proyecto asciende a
3M€
Líder del proyecto
FUNDACION PUBLICA GALEGA DE MEDICINA XENOMICA
No se ha especificado una descripción o un objeto social para esta compañía.
Perfil tecnológico
TRL
4-5
173K
Perfil tecnológico
TRL
4-5
173K
508.08K€ |
Participante
328.71K€ |
Participante