Welcome to my personal page. I'm Christian, a PhD student at Universidade da Coruña, under the direction of Dr. María J. Martín Santamaría and Dr. Jorge González Domínguez. My research is focused on epistasis interactions in GWAS, from its genetic architecture, simulation models and detection methods. In my free time I also like to contribute to open source projects.
IEEE/ACM TCBB :: 15 October 2020
Finding epistatic interactions among loci when expressing a phenotype is a widely employed strategy to understand the genetic architecture of complex traits in GWAS. The abundance of methods dedicated to the same purpose, however, makes it increasingly difficult for scientists to decide which method is more suitable for their studies. This work compares the different epistasis detection methods published during the last decade in terms of runtime, detection power and type I error rate, with...
BMC Bioinformatics :: 9 April 2020
Epistasis is defined as the interaction between different genes when expressing a specific phenotype. The most common way to characterize an epistatic relationship is using a penetrance table, which contains the probability of expressing the phenotype under study given a particular allele combination. Available simulators can only create penetrance tables for well-known epistasis models involving a small number of genes and under a large number of limitations.
Toxo is a MATLAB library...
IJHPCA :: 27 May 2019
Genome-Wide Association Studies (GWASs), analyses that try to find a link between a given phenotype (such as a disease) and genetic markers, have been growing in popularity in the recent years. Relations between phenotypes and genotypes are not easy to identify, as most of the phenotypes are a product of the interaction between multiple genes, a phenomenon known as epistasis. Many authors have resorted to different approaches and hardware architectures in order to mitigate the...
Toxo is a MATLAB library for GWAS dataset simulation. It calculates penetrance tables of epistasis models of any interaction order. Toxo is capable of calculating penetrance tables with extreme values of prevalence and/or heritability, which in turn allows to generate datasets resembling real populations more closely.
MPI3SNP is a GWAS program, written in C++, dedicated to epistasis detection. It implements a three-way exhaustive search for cluster architectures with the aim of mitigating the exponential growth of the runtime. MPI3SNP targets both GPU and CPU clusters.