A5043163378- Genetic Associations and Epidemiology
- Genetic and phenotypic traits in livestock
- Genetic diversity and population structure
- Forensic and Genetic Research
- COVID-19 Clinical Research Studies
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- COVID-19 Pandemic Impacts
- Genetic Mapping and Diversity in Plants and Animals
- Food Security and Health in Diverse Populations
- interferon and immune responses
- Global Financial Crisis and Policies
- SARS-CoV-2 and COVID-19 Research
- Liver Disease Diagnosis and Treatment
- Indigenous Studies and Ecology
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Culinary Culture and Tourism
- Sepsis Diagnosis and Treatment
- Economic Theory and Policy
- Pancreatitis Pathology and Treatment
- Race, Genetics, and Society
- Fiscal Policies and Political Economy
- Obesity, Physical Activity, Diet
- Long-Term Effects of COVID-19
- Global trade, sustainability, and social impact
Instituto de Salud Carlos III
2021-2025
Centro Nacional de Microbiologia
2022-2025
University of Zurich
2024-2025
University of the Witwatersrand
2017-2024
Heidelberg University
2024
Universidade de Santiago de Compostela
2009-2024
Public Library of Science
2022
Middle East Technical University
2020-2021
McGill University
2014
University of California, San Diego
2014
Runs of Homozygosity (ROH) are genomic regions where identical haplotypes inherited from each parent. Since their first detection due to technological advances in the late 1990s, ROHs have been shedding light on human population history and deciphering genetic basis monogenic complex traits diseases. ROH studies predominantly exploited SNP array data, but gradually moving whole genome sequence (WGS) data as it becomes available. WGS covering more variability, can add value studies, require...
MicroRNAs (miRNAs) have a crucial role in regulating immune response against infectious diseases, showing changes early disease onset and before the detection of pathogen. Thus, we aimed to analyze plasma miRNA profile at COVID-19 identify miRNAs as prognostic biomarkers severity survival.Plasma miRNome 96 patients that developed asymptomatic/mild, moderate severe was sequenced together with group healthy controls. Plasma immune-related were also assessed. showed 200 significant...
Human gut microbiome research focuses on populations living in high-income countries and to a lesser extent, non-urban agriculturalist hunter-gatherer societies. The scarcity of between these extremes limits our understanding how the microbiota relates health disease majority world's population. Here, we evaluate composition transitioning South African using short- long-read sequencing. We analyze stool from adult females rural Bushbuckridge (n = 118) or urban Soweto 51) find that...
The kings of the Spanish Habsburg dynasty (1516–1700) frequently married close relatives in such a way that uncle-niece, first cousins and other consanguineous unions were prevalent dynasty. In historical literature, it has been suggested inbreeding was major cause responsible for extinction when king Charles II, physically mentally disabled, died 1700 no children born from his two marriages, but this hypothesis not examined genetic perspective. article, is checked by computing coefficient...
The history of human inbreeding is controversial.1 In particular, how the development sedentary and/or agricultural societies may have influenced overall levels, relative to those hunter-gatherer communities, unclear.2-5 Here, we present an approach for reliable estimation runs homozygosity (ROHs) in genomes with ≥3× mean sequence coverage across >1 million SNPs and apply this 411 ancient Eurasian from last 15,000 years.5-34 We show that frequency inbreeding, as measured by ROHs, has...
Background metabolic changes through SARS-CoV-2 infection has been reported but not fully comprehended. This dysregulation affects multiple organs during COVID-19 and its early detection can be used as a prognosis marker of severity. Therefore, we aimed to characterize cytokine profile at onset relationship with disease severity identify profiles predicting progression. Material Methods performed retrospective cross-sectional study in 123 patients which were stratified asymptomatic/mild,...
Charles Darwin, who was married to his first cousin, Emma Wedgwood, one of the experimentalists demonstrate adverse effects inbreeding and question consequences consanguineous mating. He documented phenomenon depression for numerous plant species, this caused him worry about health own children, were often ill. To determine whether Darwin's fears justified, we constructed a pedigree Darwin/Wedgwood dynasty from large quantity genealogical information published on these families. The...
PurposeThe variome of the Turkish (TK) population, a population with considerable history admixture and consanguinity, has not been deeply investigated for insights on genomic architecture disease.MethodsWe generated analyzed database variants derived from exome sequencing data 773 TK unrelated, clinically affected individuals various suspected Mendelian disease traits 643 unaffected relatives.ResultsUsing uniform manifold approximation projection, we showed that genomes are more similar to...
Abstract The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed COVID-19 the SCOURGE study, we found 133 cases (1.42%) detectable clonal mosaicism for chromosome alterations (mCA) 226 (5.08%) acquired loss Y (LOY). Individuals mosaic events (mCA and/or LOY) showed a 54% increase risk...
Nepal, largely covered by the Himalayan mountains, hosts indigenous populations with distinct linguistic, cultural, and genetic characteristics. Among these populations, Raute, Nepal's last nomadic hunter-gatherers, offer a unique insight into demographic history of foragers. Despite strong cultural connections to other regional foragers, this population remains understudied. This study presents newly genotyped genome-wide SNP data Raute explore their isolation, origins potential as an older...
The frequency of mitochondrial DNA haplogroups (mtDNA-HG) in humans is known to be shaped by migration and repopulation. Mounting evidence indicates that mtDNA-HG are not phenotypically neutral, selection may contribute its distribution. Haplogroup H, the most abundant Europe, improved survival sepsis. Here we developed a random forest trained model for haplogroup calling using data procured from GWAS arrays. Our results reveal context SARS-CoV-2 pandemic, HV branch were found represent...
The analysis of the effects autozygosity, measured as change mean value a trait among offspring genetic relatives, reveals existence directional dominance or overdominance. In this study we detect evidence effect autozygosity in 4 out 13 cardiometabolic disease-associated traits using data from more than 10,000 sub-Saharan African individuals recruited Ghana, Burkina Faso, Kenya and South Africa. on these phenotypes is found to be sex-related, with inbreeding having significant decreasing...
Thymidine kinase 2 deficiency (TK2d) is a rare autosomal recessive disorder that stems from perturbation of the mitochondrial DNA maintenance. Nucleoside treatment has recently shown promise as disease-modifying therapy. TK2d was initially associated with rapidly progressive fatal myopathy in children featuring depletion. Subsequently, less severe variants disease were described, onset symptoms during adolescence or adulthood and presence multiple mtDNA deletions. These phenotypes have been...
Charles Darwin, who was married to his first cousin Emma Wedgwood, the experimentalist demonstrate adverse effects of inbreeding. He documented deleterious consequences self-fertilization on progeny in numerous plant species, and this research led him suspect that health problems 10 children, were very often ill, might have been a consequence marriage cousin. Because Darwin's concerns regarding children even nowadays are considered controversial, we analyzed potential inbreeding fertility 30...
Massive genotyping of single nucleotide polymorphisms (SNP) has opened opportunities for analyzing how selection shapes genomes. Artificial/natural leaves genomic signatures associated with selective sweeps around the responsible locus. Strong are often identified by lower genetic diversity than average and/or islands runs homozygosity (ROHi). We conducted an analysis in turbot (Scophthalmus maximus) using two SNP datasets from a Northeastern Atlantic population (36 individuals) and domestic...
Abstract Background and Aims People who inject drugs (PWID) other marginalized populations with high hepatitis C virus (HCV) infection rates represent a unique challenge for treatment initiation due to health, administrative social barriers. We analysed the HCV cascade of care (CoC) in some vulnerable subpopulations Madrid, Spain, when using mobile point‐of‐care (PoC). Methods From 2019 2021, unit was used screen active linkage‐to‐care two‐step PoC‐based strategy. Viremic participants were...
Hypertension and congenital aortic valve malformations are frequent causes of ascending aneurysms. The molecular mechanisms aneurysm formation under these circumstances not well understood. Reference genes for gene activity studies in tissue that influenced by morphology its hemodynamic consequences, dilatation, hypertension, or antihypertensive medication available so far. This study determines independent parameters. Tissue specimens from dilated undilated aortas were obtained 60 patients...
Abstract The South Asian subcontinent is characterized by a complex history of human migrations and population interactions. In this study, we used genome-wide data to provide novel insights on the demographic relationships six Indo-European populations from Indian State West Maharashtra. samples correspond two castes (Deshastha Brahmins Kunbi Marathas) four tribal groups (Kokana, Warli, Bhil Pawara). We show that have had much smaller effective sizes than castes, genetic drift has higher...
Switching dual therapy with dolutegravir (DTG) plus rilpivirine (RPV) was assessed in the SWORD-1 and SWORD-2 studies. Real-life data regarding immunological impact of this approach on CD4+ CD8+ T lymphocyte counts CD4/CD8 ratio are scarce. We evaluated strategy basis clinical practice data.A multicentric retrospective cohort study.Treatment-experienced virologically suppressed HIV-1-infected patients who were switched to DTG RPV included. Using different models for paired data, we efficacy...
Background: The "Habsburg jaw" has long been associated with inbreeding due to the high prevalence of consanguineous marriages in Habsburg dynasty. However, it is thought that mandibular prognathism (MP) under influence a dominant major gene.Aim: To investigate relationship between and pedigree-based coefficient (F) as relative measure genome homozygosity.Subjects methods: degree MP maxillary deficiency (MD) 15 members dynasty was quantified through clinical analysis 18 dysmorphic features...
Methotrexate (MTX) is a commonly used drug for the treatment of rheumatoid arthritis (RA), but its effectiveness can vary greatly among patients. Pharmacogenetics, study how genetic variations affect response, has potential to improve personalized RA by identifying markers that predict patient's response MTX. However, field MTX pharmacogenetics still in early stages and there lack consistency studies. This aimed identify associated with efficacy toxicity large sample patients, investigate...