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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes

Autor: Cereda M., Gambardella G., Benedetti L., Iannelli F., Patel D., Basso G., Guerra R. F., Mourikis T. P., Puccio I., Sinha S., Laghi L., Spencer J., Rodriguez-Justo M., Ciccarelli F. D.

Synchronous colorectal cancers (syCRCs) are physically separated tumours that develop simultaneously. To understand how the genetic and environmental background influences the development of multiple tumours, here we conduct a comparative analysis of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3730::3fea7d0f023af324bf3d7a96ac3cb41e
https://hdl.handle.net/11588/906793

MEGA-V: detection of variant gene sets in patient cohorts

Autor: Lorena Benedetti, Matteo Cereda, Gennaro Gambardella, Francesca D. Ciccarelli

Publikováno v: Gambardella, G, Cereda, M, Benedetti, L & Ciccarelli, F D 2017, ' MEGA-V: detection of variant gene sets in patient cohorts ', BIOINFORMATICS, vol. 33, no. 8, pp. 1248-1249 . https://doi.org/10.1093/bioinformatics/btw80
Bioinformatics

Summary Detecting significant associations between genetic variants and disease may prove particularly challenging when the variants are rare in the population and/or act together with other variants to cause the disease. We have developed a statisti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63457c21210e355b58ccf647dc264756
https://kclpure.kcl.ac.uk/ws/files/63569371/MEGA_V_detection_of_variant_GAMBARDELLA_Published21December2016_GOLD_VoR_CC_BY_.pdf