I am a PhD student at Center for Computational Biology (CBIO), a joint research unit between Mines ParisTech, Institut Curie and INSERM. CBIO is dedicated to epidemiology, bioinformatics and computational systems biology of cancer. I am co-supervised by Chloé-Agathe Azencott and Véronique Stoven.
The big question of my thesis is the missing heritability of complex diseases, that is, the discordance between the estimated genetic determination of a phenotype, and the actual genetic factors we can associate with it. To tackle it, I incorporate prior knowledge to GWAS, namely biological networks that give a context to every SNP. In consequence, we can carry out context-dependent statistics, fine tuning the significance threshold for each variant. We hope that this will allow us to find common SNPs with low effect sizes that would be difficult to detect by traditional GWAS. Currently we are applying these approaches to find new biomarkers of familial breast cancer.
I got a double degree on Biotechnology and Biochemistry in Universitat Autònoma de Barcelona in 2012. After a turbulent, love-hate relationship with experimental biology, I got into computational biology, obtaining a MSc in Bioinformatics at Universitat Pompeu Fabra in 2014. I kept exploring my profesional and research interests, finally deciding to start a PhD in CBIO, a machine learning-oriented group directed by Jean-Philippe Vert.