Tomàs Marquès‐Bonet

The paper identifies bats as a hotspot for horizontal transfer of DNA transposons, finding over 200 putative elements and shared transposons across mammals and reptiles.

The paper analyzes genomes of leatherback and green turtles to identify gene family expansions and demographic differences that may influence their ecological adaptations and conservation status.

DeepMosaic detects mosaic single nucleotide variants without control samples using deep convolutional neural networks, achieving high accuracy and uncovering many variants missed by existing methods.

This study sequenced the genomes of two Arabian leopards, revealing population decline, inbreeding, and purging of deleterious mutations, and highlights the need for more genetic data to inform conservation efforts.

The paper examines the genetic impact of an Ebola outbreak on a wild gorilla population, finding no change in genetic diversity but identifying six missense mutations potentially linked to survival.

The paper estimates genetic load in mammals and finds that species with small population sizes and low diversity have lower genetic load due to purging of deleterious alleles.

The paper analyzes ACE2 gene sequences in strepsirrhine primates to assess their susceptibility to SARS-CoV-2, finding high variability and potential risk in some species.

This study identifies somatic SNVs in non-cancerous human brain tissues and establishes best practices for detecting low-frequency variants.

This study presents the first genome annotation of a capuchin monkey and identifies genes under positive selection related to longevity, brain development, and adaptation to diverse environments.

The paper introduces a machine learning method to detect somatic L1 insertions in human brain tissue, revealing their widespread distribution in neurons and glia and potential role in neuropsychiatric diseases.

The paper characterizes recent nuclear mitochondrial insertions (NumtS) in primate genomes, showing higher prevalence and rates in chimpanzees compared to other great apes.

The paper identifies extensive methylation changes in genes related to facial and vocal anatomy in modern humans compared to ancient humans and chimpanzees.

The paper compares gene expression and DNA methylation across tissues and species in primates, finding that only 7-11% of inter-species expression differences are explained by methylation, with higher explanation in tissue-specific genes.

The paper analyzes metagenomic data from a blood stain on a newspaper linked to Jean-Paul Marat to investigate potential infectious agents of his skin condition.

The paper generates a genome from a historical European Plasmodium vivax strain, revealing its evolutionary relationship to American strains and the presence of drug resistance variants predating their use.

The paper analyzes genetic variation in chimpanzees and bonobos to show how demographic history affects purifying selection and identifies lineage-specific functional changes linked to reproductive differences.

The paper develops a method to sequence and assemble a human Y chromosome of African origin using native DNA and nanopore sequencing, achieving high continuity and enabling epigenetic modification detection.

The paper estimates mutation rates in great apes and finds a recent slowdown in the human mutation rate per year compared to other species.