Matteo Fumagalli

Selection-guided discovery in South Asians implicates the MAPT locus in insulin resistance

The paper integrates positive selection signatures with genetic data to identify metabolically relevant loci in South Asians, finding the MAPT locus associated with insulin resistance.

An ancestry-enriched HNF4A variant and GP2 reveal distinct mechanisms of type 2 diabetes in exome-wide study of 13,674 cases and 41,024 controls

The paper identifies ancestry-specific T2D risk variants in South Asian populations through exome-wide association study and functional validation.

Semi-supervised detection of natural selection with positive-unlabeled learning

This paper introduces PULSe, a semi-supervised method for detecting selective sweeps using positive-unlabeled learning, showing high performance across diverse genomic contexts.

On the use of generative models for evolutionary inference of malaria vectors from genomic data

This paper uses generative deep learning to infer the evolutionary history of malaria vectors in West Africa, finding that a migration model better explains population dynamics than a model without post-split migration.

The importance of small island populations for the long term survival of endangered large-bodied insular mammals

This study shows that small island populations of anoa and babirusa have higher genetic quality despite lower diversity, suggesting they should be prioritized for conservation over mainland translocations.

Efficient detection and characterization of targets of natural selection using transfer learning

This study introduces TrIdent, a transfer learning tool for detecting adaptive genomic regions, showing improved performance over existing methods in various genetic and demographic settings.

Simultaneous Inference of Past Demography and Selection from the Ancestral Recombination Graph under the Beta Coalescent

This paper introduces two methods to infer demographic history and selection from sequence data by modeling the ancestral recombination graph under the beta coalescent.

The genomic footprint of social stratification in admixing American populations

This study infers sociocultural stratification in admixed American populations using genomic data and a mating model with ancestry-related assortative mating and sex bias parameters.

HMMploidy: inference of ploidy levels from short-read sequencing data

HMMploidy infers ploidy levels from short-read sequencing data, outperforming existing methods at low-depth with large sample sizes and revealing aneuploidy in Cryptococcus neoformans.

Disentangling signatures of selection before and after European colonization in Latin Americans

This study identifies loci under selection in Latin American admixed populations, distinguishing between pre- and post-admixture selection, and finds signals related to immunity and energy metabolism.

Genetic diversity of CHC22 clathrin impacts its function in glucose metabolism

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.