Jukka Partanen

The paper introduces the Proteomic Sex Index (PSI), a continuous measure of plasma proteome alignment with chromosomal sex, showing its association with health and disease traits.

This paper performs fine-mapping of HLA effects in lichen planus subtypes, identifying specific HLA haplotypes associated with increased or decreased risk in oral and non-oral forms.

This study identifies 2,973 genetic loci associated with health outcomes in blood donors, suggesting genetic factors contribute to the healthier donor effect.

The paper investigates the impact of CFHR gene deletions on kidney transplant rejection risk and identifies associated SNPs and protein expression changes.

The paper uses population-scale single-nucleus ATAC-seq and RNA-seq to identify regulatory variants and their disease associations in immune cells.

The paper describes a pipeline for collecting high-quality blood samples from donors for multi-omics research, demonstrating their suitability for genetic and phenotypic studies.

This study identifies 1,242 novel genetic variants and 31 novel genes associated with frailty through genome-wide association and proteomics integration.

The paper identifies genetic loci associated with female infertility through a GWAS, revealing a rare recessive mutation in TBPL2 and age-dependent risk factors.

This study conducts a genome-wide meta-analysis across three biobanks to identify new genetic loci associated with lumbar disc herniation, expanding the known genetic landscape.

The paper develops imputation models for non-classical HLA genes using SNP data, achieving high accuracy and providing accessible tools for research.

The paper develops Blood Cell Painting (BCP) to profile immune cell morphology in healthy donors, identifying genetic and clinical associations with immune cell features.

The paper develops a machine learning method to predict blood group antigens and HPA-1 from genotyping data, achieving high accuracy in multiple cohorts.

DeepIFC uses deep learning to generate fluorescent marker images from imaging flow cytometry data, enabling accurate cell typing and recognition of unseen cell types.

This study conducts a GWAS of preeclampsia and hypertensive disorders of pregnancy, identifying 18 genome-wide significant loci, including novel associations with blood pressure and placental function.

This study identifies mismatches in gene deletions and kidney-related proteins as novel histocompatibility factors associated with acute rejection in kidney transplantation.

This study evaluates the impact of communicating polygenic and clinical risk scores for ASCVD via a web tool, finding that high-risk individuals made more health behavior changes.

The paper imputes KIR gene content from SNPs in the Finnish population with high accuracy using a stand-alone model trained on biobank data.

The paper introduces a multivariate GWAS framework that identifies functional variants and disease associations by transforming multivariate results into univariate phenotypes for follow-up analysis.

The paper uses RNA sequencing to analyze allele-specific expression levels of HLA genes in 50 healthy individuals, finding significant differences in mRNA expression between HLA alleles.