Iain Mathieson

Local ancestry methods on 176 imputed Neolithic genomes disagree on tract lengths; replicated meta-analysis supports selection at SLC24A5 and FADS1/2, while HLA signals look artefactual.

The paper uses admixture mapping in the All of Us Research Program to identify genetic ancestry associations with 22 traits, finding 71 novel loci where African ancestry explains phenotypic variation.

The paper analyzes mutation spectra across 108 eukaryotic species, revealing cytosine transition mutability at CpG and CHG sites as key drivers of variation, with methylation levels not predicting mutation rates.

This study identifies genetic loci associated with Meniere's disease and links them to inner ear development and retinoic acid metabolism.

The paper shows that phenotype scale choice affects GxE signals in biobank data, with log scaling revealing meaningful effects and explaining a significant portion of PGSxSex interactions.

This study uses ancient DNA to identify global patterns of natural selection across 7244 individuals from five regions, finding shared and region-specific adaptive signals.

The paper integrates ancient genomic and phenotypic data to analyze stature in prehistoric Europeans, finding that lactase persistence alleles positively affect stature in ancient populations but not in modern ones.

This paper examines how genetic interactions with ancestry affect polygenic scores and shows that models of local and global ancestry interactions can be distinguished using partial polygenic scores when causal variants are known.

This paper refutes claims of strong natural selection during the Black Death by showing statistical and technical flaws in the original analysis.

This paper introduces a GAN-based method to detect natural selection by training on neutral data and identifying regions that deviate from simulated neutral patterns.

Baymer is a Bayesian hierarchical model that estimates mutation probabilities using sequence context, showing improved accuracy and robustness compared to previous methods.

This study investigates mtDNA copy number (mtCN) in a diverse cohort, finding ancestry-specific genetic and phenotypic associations and highlighting the impact of blood cell composition on results.

The paper develops a gene-level test for directional selection on gene expression using regulatory variants and identifies 45 genes with significant evidence of selection.

This study identifies 43 genomic loci associated with reproductive success in 785,604 individuals, showing ongoing natural selection at the FADS locus.

The paper examines how socio-cultural practices influenced sexual dimorphism in stature among Early Neolithic European populations, finding that cultural factors, not environment or genetics, primarily drove height disparities.

The paper uses ancient DNA and machine learning to study gene regulation changes in human populations and their link to environmental adaptation.

The paper shows that cousin marriage preferences increase long runs of homozygosity (ROH) in global populations by 1.5 times, but marriage practices explain only a small portion of ROH variation.

This paper introduces pg-gan, a GAN-based method to estimate demographic parameters in population genetics, showing it can recover input parameters in simulations and recapitulate real human data features.

This paper develops a hidden Markov model to estimate time-varying selection coefficients from allele frequency time series data and applies it to ancient DNA data to study selection in humans.

This study shows that demographic history affects population stratification in polygenic scores, with recent structure being hard to correct using standard methods.

This paper evaluates how well polygenic scores for height predict traits in admixed populations and identifies ancestry-related factors affecting their accuracy.

The paper uses a Bayesian method to infer ancient demographic events and finds evidence of migration from Eurasian ancestors into Africa 40-70 thousand years ago.

This study analyzes SNP-chip data from 2,184 French individuals to identify genetic clusters, detect gene flow barriers, and estimate population size changes, revealing historical demographic patterns.

The paper presents new ancient DNA data from a Late Epigravettian burial in Sicily, confirming genetic homogeneity among Central Mediterranean hunter-gatherers.

The paper examines the genetic diversity of CHC22 clathrin and its impact on glucose metabolism, finding that a variant is less effective at controlling GLUT4 traffic and is more common in farming populations.

The paper analyzes genetic data from prehistoric individuals in the North Caucasus to explore the origins of Eurasian steppe ancestry and its relationship to cultural innovations.

Ancient DNA from 223 people (12,000-500 BCE) reveals a west-east hunter-gatherer cline, largely unadmixed farmers, Caucasus-shifted Aegean farmers, and Balkan steppe ancestry almost 2,000 years early.

The paper analyzes rare variant spectra across human populations, identifying two distinct mutation signatures linked to deamination and recent demography.

This study uses ancient DNA to identify genetic selection signatures in European populations over 8,000 years, finding loci related to diet, pigmentation, immunity, and height.