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My current research is mainly focused on the study of the influence of genetic factors on common human diseases from an evolutionary, genetic epidemiological, epigenetic and functional point of view.
Specifically, I am interested on complex loci including mitochondrial DNA copy number, nuclear CNVs and non-recombining haplogroups. I have also published a number of studies on specific human diseases.
The analytical approaches used include association studies (and GWAS), causal analyses through Mendelian Randomisation, Bioinformatics, Population Genetics and whole-genome sequence analysis in consanguineous families.
Previous work includes linkage disequilibrium analyses, developing and patenting a new method for dinucleotide repeat genotyping, study of the human chromosome Y in the context of complex traits and statistical genetic analyses of two candidate genomic regions (the IGF2-INS-TH region and the ACE-GH cluster) in relation to metabolic and cardiovascular risk traits. My experimental laboratory work included specific SNPs, microsatellites and method developments.
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Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferationLongchamps, R. J., Yang, S. Y., Castellani, C. A., Shi, W., Lane, J., Grove, M. L., Bartz, T. M., Sarnowski, C., Liu, C., Burrows, K., Guyatt, A. L., Gaunt, T. R., Kacprowski, T., Yang, J., De Jager, P. L., Yu, L., Bergman, A., Xia, R., Fornage, M., Feitosa, M. F. & 32 others, , Jan 2022, In: Human Genetics. 141, 1, p. 127-146 20 p.
Research output: Contribution to journal › Article (Academic Journal) › peer-reviewOpen AccessFile8 Downloads (Pure)
Confirmed causal effect of obesity on asthma and new insights on potential underlying shared genetic mechanisms.Granell, R. & Rodriguez, S., 1 Feb 2020, In: Journal of Allergy and Clinical Immunology. 145, 2, p. 484-486 3 p.
Research output: Contribution to journal › Editorial (Academic Journal) › peer-reviewOpen AccessFile1 Citation (Scopus)18 Downloads (Pure)
Parker, K., Erzurumluoglu, A. M. & Rodriguez, S., 29 Oct 2020, In: Genes. 11, 11, 19 p., 1273.
Research output: Contribution to journal › Review article (Academic Journal) › peer-reviewOpen AccessFile2 Citations (Scopus)55 Downloads (Pure)