Kerstin Lindblad‐Toh

This paper uses GWAS in dogs and humans to identify a gene network linked to compulsive disorders, revealing biological pathways not detectable in human studies alone.

This paper evaluates combining expression-based surrogate variables and genotype-based principal components in differential expression analysis, finding the combined approach improves replicability and biological recall in ALS datasets.

The paper presents a single nuclei RNA sequencing resource of dog brain cells, identifying cell types and revealing differences in opioid receptor expression compared to humans and mice.

The paper examines mammalian evolutionary constraint at synonymous sites, finding significant constraint in 20.8% of four-fold degenerate sites and biases toward G/C content and splice sites.

This paper introduces GISMO and GISMO-mis metrics to quantify gene loss and missense variation across mammals, identifying essential genes and improving gene-disease associations.

This study conducts a large-scale GWAS of OCD, identifying 15 new genome-wide significant loci and linking OCD to multiple cortical regions and cell types.

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

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 investigates the genetic basis of hibernation in the meadow jumping mouse by analyzing its genome and transcriptome, identifying key genes and pathways involved in hibernation-related processes.

The paper predicts the broad host range of SARS-CoV-2 by analyzing ACE2 conservation across vertebrates and identifying high-risk species.

The paper presents a new long-read dog genome assembly that reduces gaps and identifies thousands of previously hidden exons and functional elements.

The paper develops SweHLA, a high-confidence HLA typing resource from 1,000 Swedish genomes, showing high concordance across software and highlighting discordant alleles potentially linked to disease.

The paper improves the Cactus multiple-genome aligner to handle large numbers of vertebrate genomes with high accuracy and better orthology resolution.

The paper compares genomic features of canine and human angiosarcoma, finding shared genes and pathways, suggesting dogs as a valuable model for studying this cancer.

The paper uses an OU process to model gene expression evolution across mammals and identifies expression pathways under different selection pressures.

The paper identifies OCD-associated genes by combining evolutionary and functional data with targeted sequencing in humans and animal models.