Population Genetics & Evolution
We aim at understanding the origin, evolution and consequences of genetic diversity, using a variety of model systems and approaches under the perspective of population genetics theory.
The development of tools for the identification of variants and their interactions contributing to the aetiology of, or the susceptibility to, genetic or infectious diseases is a main theme of research, in order to develop efficient screenings and diagnostics, and to identify individuals at high risk of developing a disease, improving genetic counselling and treatment, including the study of the genetic variation in the response to xenobiotics and pharmacogenetics.
The role of coding and non-coding sequences in gene expression regulation and the impact of structural genomic variation on fertility and disease susceptibility, is investigated by two strategic approaches: an evo-devo line based on the evolutionary comparison of specific genomic regions and their expression patterns in ontogeny, and genome wide methods.
Besides health an applied line of research is related to forensics and quality control issues through the development of methods, techniques, and the design of exercises, recommendations and guidelines.
The research strategy described for humans is also applied to the history, conservation and management of domesticates and laboratory animals, identification and diagnostic tools and food quality.
The Group is also devoted to the mathematical modelling of generalized kinship relations, automated DNA sequence analyses and to the history, migration and substructure of metapopulations.
CAG instability in Machado-Joseph disease
SCA2 repeats and ALS risk
Erythrocyte enzymes and malaria resistance
Hospital dispersion of A. fumigatus; mutations in antifungals resistance
Individual cancer risks and drug dosage
Epigenetic and genetic 2nd hits in gastric cancer
Pathogenic mutations origins and mechanisms
Epistasis in respiratory and Golgi complexes
Selection at mtDNA secondary structure and deletions associated with non-B conformations
Evolution and diversification of gene families
Overlapping genes: evolution of splicing and polyA signals
Software for analysis and classification of mtDNAs
Assessment of ancestry and interethnic admixture
Human fertility increases with marital radius
Y chr. genes essential for spermiogenesis
Transcriptional changes in a Turner mouse model; clustering of inactivation escapees
Derivation of the sets of pedigrees with same IBD and generalization to X-chr.
PCR method and software for species and breed identification in food or degraded samples
Neandertal X-chr. haplotype in all non-African populations
History of the Roma and pathogenic mutational spectrum
From 26-JUL-18 to 25-JUL-21
Proponent: Universidade do Minho
From 26-JUL-18 to 25-JUL-21
From 01-JAN-19 to 31-DEC-21