Mait Metspalu

The paper uses a massively parallel reporter assay to study the regulatory effects of variant pairs in enhancers, finding non-additive effects and context-dependent interactions.

This paper uses genomic and historical data to refine the timeline and origin of the Second Plague Pandemic in Western Eurasia.

This paper develops a neural network model, nnCNV, to detect CYP2C19 deletions from genotyping array signals, achieving higher accuracy than existing methods.

This study identifies genetic loci associated with antihypertensive medication switching, implicating neurotensin-NTSR1 signaling in ACE inhibitor-induced cough and CYP3A4*22 in dCCB intolerance.

This study performs a large-scale GWAS on 249 metabolic traits in 619,372 individuals, identifying 88,604 associations and using MR to explore causal links between metabolites and diseases.

The paper analyzes ancient genomic samples from prehistoric Europe, identifying co-infections with Yersinia pestis and other pathogens, and provides insights into their transmission and historical context.

This study analyzes ancient DNA to reveal the 2500-year evolutionary history of human betaherpesviruses 6A and 6B, showing established diversity by the 14th century and ancient integration into the human genome.

The paper shows that migration behavior in Estonia increases spatial genetic differentiation at trait-associated loci, with educational attainment PGS driving inter-regional differences.

This study shows that Near Eastern ancestry in Central Italy arrived during the late Republican period, before the Roman Empire began.

This study uses neural networks to analyze genetic data from Papua New Guinean populations, finding a bottleneck and slower growth rate rather than admixture with an early out of Africa population.

The paper analyzes genomic data from the Picene culture to explore genetic continuity and change during the Iron Age and Roman expansion in Central Italy.

The paper reviews the Estonian Biobank's role in advancing genomics research and personalized medicine through its comprehensive data and translational focus.

This study investigates the association between ancestral genetic components and complex traits in European biobanks, finding that these components contribute to trait variation and act as confounders.

ASAP uses PCA and NNLS to reliably estimate ancestry in admixed individuals, even with high missing data, and performs faster than existing tools.

The paper analyzes whole genome data from Fulani individuals to explore their genetic origins, suggesting a possible link to ancient Saharan populations rather than recent Eurasian admixture.

The paper analyzes genome-wide data from 52 ancient individuals in Cambridgeshire to show low genetic ancestry differentiation and limited genetic relatedness during the Roman occupation, with modern genetic patterns emerging after the Roman period.

The paper presents ancient HSV-1 genomes from Europe, estimates mutation rates, and suggests lineage replacement during the Bronze Age.

The paper analyzes ancient DNA from Iron Age Apulian sites to explore the genetic origins of the Daunians and their place in the Pan-Mediterranean genetic landscape.

This study connects genetic ancestry from three ancient populations to complex traits in Estonian Biobank samples, finding ancestry-specific contributions to traits like BMI and blood cholesterol.

The paper identifies shared post-admixture adaptation patterns in the Americas by analyzing genomic data from 6,000 admixed individuals, highlighting regions associated with immune response and disease traits.

The paper analyzes genomic data from Indigenous groups in Panama to reveal pre-Hispanic demographic changes and the genetic structure of the Isthmo-Colombian area.

This study identifies high genetic heterogeneity in the Kuwaiti population by analyzing genome-wide SNP data from 583 individuals, revealing distinct subgroups with different ancestral origins.

The paper identifies Indonesia-specific eQTLs and methylQTLs linked to local ancestry and archaic introgression, showing their impact on gene regulation and hematological traits.

This study analyzes the genetic impact of European colonization on the Americas using genome-wide data from 12,000 individuals, revealing complex contributions from European, African, and other sources.

The paper analyzes genome-wide data from Corsicans and finds they are genetically closer to Northern and Central Italians than to Sardinians.

The paper analyzes the genetic structure of modern-day Italians to reveal ancient and archaic ancestries shaping Southern European populations and Neanderthal DNA distribution.

The paper estimates admixture dates and identifies source populations for genetic components in Indian Austroasiatic speakers using genome-wide data.

This study analyzes genome-wide data from inner Eurasian populations to characterize genetic admixture patterns and their historical context.

This study identifies genetic traces of historical admixture among Turkic-speaking populations, linking their ancestry to southern Siberia and Mongolia during the 9th-17th centuries.