Arcadi Navarro

The paper identifies convergent amino-acid substitutions in primate species linked to male-fertility genes and longevity.

This paper introduces the Phenotype Shift Score (PSS) to identify highly differentiated primate species pairs and shows it improves comparative-genomic signal detection.

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

This study identifies cell-type-specific DNA methylation dynamics in the human cortex across development, highlighting prenatal periods as critical for epigenomic plasticity and linking changes to neurodevelopmental disorders.

Cross-species genome-phenome mapping in primates reveals thousands of protein-coding variants linked to the evolution of complex traits.

This study identifies genetic trade-offs between fertility, longevity, and disease risk, showing that disease-risk alleles can persist due to reproductive advantages.

The paper uses long-read sequencing to identify and characterize APOE haplotypes in a Spanish cohort, finding associations between specific haplotypes and reduced risk of Alzheimer's disease progression.

This study presents a multi-omics analysis of a supercentenarian, revealing that extreme age and poor health are distinct molecular processes.

The paper identifies TIMP2 as a blood protein associated with improved cognitive performance in humans using polygenic scores derived from protein quantitative trait loci data.

The paper identifies lipid-related genetic mechanisms contributing to white matter hyperintensities in middle-aged individuals at low risk for late-life dementia.

The paper identifies brain structure signatures linked to Alzheimer's genetic risk across disease stages using compositional data analysis.

The paper identifies proteins and regulatory elements associated with vocal learning by analyzing bat neural activity and epigenomic data.

The paper characterizes the genetic profiles of ALFA participants, showing high AD genetic risk and similarity to clinical groups along the AD continuum.

CAAStools identifies and validates convergent amino acid substitutions in orthologous protein alignments for predefined species groups.

The paper uses primate genetic data to predict human variant pathogenicity with a deep learning classifier trained on 4.3 million common missense variants.

This study presents whole-genome data from 233 primate species, revealing patterns of genetic diversity, mutation rates, and recurrent missense mutations across primate clades.

TOGA integrates gene annotation and orthology inference across hundreds of genomes, improving ortholog detection and creating large comparative gene resources.

A machine learning approach identifies enhancer-phenotype associations across mammals, revealing links to brain size and behavior evolution.

The paper curates TE content in 248 mammalian genomes, finding trends in recent TE accumulation and associations with dietary habits.

A 240-species placental mammal alignment resolves constraint to single bases, estimating at least 10.7% of the human genome is constrained, with 48.5% of constrained bases unannotated.

The paper uses evolutionary constraint scores to identify functional genomic regions and finds they are enriched for variants associated with common diseases.

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.

This study uses polygenic risk scores to predict BMI increase in first-episode psychosis patients, finding shared genetic variants between schizophrenia and BMI contribute significantly to the prediction.

The paper identifies shared transcriptome alterations across neurodegenerative and psychiatric disorders using post-mortem brain samples.

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.

This paper identifies amino acid changes and genes associated with longevity across mammals, showing their potential to improve human lifespan heritability interpretation.

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.

GWAS in over one million individuals identify 611 loci across risk tolerance and risky behaviors, revealing shared genetic architecture and implicating glutamatergic and GABAergic neurotransmission.