Åsa Johansson

This paper evaluates the clinical use of long-read genome sequencing in Sweden, showing it provides molecular diagnoses and reduces diagnostic costs.

The paper identifies genetic regulators of 184 neuro-related proteins in human plasma and links them to disease traits and drug targets.

The paper identifies pQTLs for 91 plasma proteins, finds novel associations, and uses MR to uncover causal roles in immune-mediated diseases, suggesting new therapeutic targets.

The paper develops genetic scores for 17,227 molecular traits using multi-omic data from INTERVAL and validates them across ancestries, demonstrating their utility in pathway analysis and disease association discovery.

The paper identifies sex-specific genetic loci associated with plasma bile acid levels using GWAS in a population-based cohort.

This study improves DVT risk prediction by combining polygenic risk scores with genotyping and whole-exome sequencing data in the UK Biobank cohort, identifying novel variants and demonstrating enhanced risk stratification.

This study identifies 592 genetic loci associated with 184 plasma proteins in 26,494 individuals and finds causal relationships between protein levels and disease.

This study identifies genetic loci associated with estradiol levels and finds a causal effect of estradiol on bone mineral density using GWAS and Mendelian randomization.

The paper identifies pQTLs for cardiovascular proteins and uses them to evaluate drug targets and suggest new candidates for precision medicine.

This study performs a GWAS on 346,545 UK Biobank participants to identify genetic loci associated with asthma, hay fever, and eczema, finding 141 loci with 41 novel to this study.

This study identifies 97 novel genetic loci associated with body fat distribution using GWAS on 362,499 UK Biobank individuals, with 40 loci previously unlinked to anthropometric traits and significant sex-specific effects observed.

SweGen provides a high-quality whole-genome map of genetic variation in the Swedish population, useful for clinical genetics and association studies.