The paper uses ABC and machine learning to determine that the SLC30A9 rs1047626 polymorphism originated in Denisovans, introgressed into Neanderthals, and then into non-African humans, with differential selection pressures in different populations.

bioRxiv · Sep 28, 2026 · PreprintEvolutionary Biology

Sex-determining 3D regulatory hubs revealed by genome spatial auto-correlation analysis

Irene Mota-Gómez, Juan Antonio Rodríguez, Shannon M. Dupont, Alicia Hurtado, Vanessa Cadenas, Leo Zuber, Iago Maceda, Óscar Lao, Johanna Jedamzick, Ralf Kühn, Scott Allen Lacadie, S. Alexandra Garcia-Moreno, Miguel Torres, Francisca Martinez Real, D. Rafael Real, , Darío G. Lupiáñez

The paper identifies 3D regulatory hubs involved in sex determination using spatial auto-correlation analysis in mouse embryos.

Nature Structural & Molecular Biology · Feb 24, 2026Peer-reviewedDevelopmental Biology

Variability vs Phenotype: multimodal analysis of Dravet Syndrome Brain Organoids powered by Deep Learning

Isabel Turpín, Adriana Modrego, Andrea Martí-Sarrias, Laura García‐González, Alba Ortega-Gascó, Anna-Christina Haeb, Ruth I. Pareja, Jordi Soriano, Nuria Ruíz, Irene Peñuelas‐Haro, Elisa Espinet, Arcadi Navarro, Daniel Tornero, Óscar Lao, Sandra Acosta

The paper develops ImPheNet, a deep learning tool to classify phenotypes and assess drug toxicity in Dravet Syndrome brain organoids using live imaging data.

iScience · Oct 23, 2025Peer-reviewedDevelopmental Biology

Performance of Sequential Markovian Coalescence Methods when Populations are Structured

Alba Nieto, Óscar Lao, Stefano Mona

This study evaluates SMC methods' performance in structured populations, finding systematic biases in IICR estimation during transition phases.

bioRxiv · Oct 9, 2025 · PreprintEvolutionary Biology

Modelling the demographic history of human North African genomes points to a recent soft split divergence between populations

Jose M Serradell, Jose Miguel Lorenzo-Salazar, Carlos Flores, Óscar Lao, David Comas

The paper models the demographic history of North African genomes, finding a recent soft split divergence between Arab and Amazigh populations and a back-to-Africa origin.

bioRxiv · Nov 7, 2023 · PreprintGenomics

The power of geohistorical boundaries for modeling the genetic background of human populations: the case of the rural Catalan Pyrenees

Joan Fibla, Iago Maceda, Marina Laplana, Montserrat Guerrero Lladós, Miguel M. Álvarez‐Álvarez, Jesús Burgueño, Agustí Camps, Jordi Fàbrega, Josefina Felisart, Joan Grané, José Luis Remón, Jordi Serra, Pedro Moral, Óscar Lao

This study analyzes genetic variation in the Catalan Pyrenees, finding micro-population substructure influenced by historical bishoprics rather than geographic barriers.

Frontiers in Genetics · Jan 10, 2023Peer-reviewedGenetics