Taru Tukiainen

Sex-related signatures in the plasma proteome not attributable to XX and XY chromosomes and their impact on health and disease

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.

Investigating the Y chromosome in complex disease: Phenome-wide scan across 104,334 Finnish men

Phenome-wide scan of Y-chromosomal variants against 1,426 traits in 104,334 Finnish men finds no significant hits; kin-based validation supports haplogroup I1 increasing coronary heart disease risk.

Early establishment and life course stability of sex biases in the human brain transcriptome

The paper examines sex biases in the human brain transcriptome across development and adulthood, finding that many sex differences originate in the prenatal period and persist into adulthood.

Role of X chromosome and dosage compensation mechanisms in complex trait genetics

This study assesses the contribution of the X chromosome to complex trait heritability and finds evidence of dosage compensation mechanisms affecting its genetic influence.

Introducing the Y chromosome ancestral reference sequence - Improving the capture of human evolutionary information

This paper introduces a Y-chromosomal ancestral-like reference sequence (Y-ARS) to improve the detection of evolutionarily informative variants on the human Y chromosome, showing it captures more consistent and derived variants compared to existing references.

Y chromosome sequencing data suggests dual paths of haplogroup N1a1 into Finland

The study analyzes Y-chromosome sequencing data from Finland to identify sublineages and geographic patterns within major haplogroups, suggesting dual migration routes for haplogroup N1a1.

Disentangling the link between maternal influences on birth weight and disease risk in 36,211 genotyped mother-child pairs

The paper uses Mendelian Randomization to assess the causal link between maternal influences on birth weight and five health outcomes in 36,211 genotyped mother-child pairs.

X-chromosome inactivation in human iPSCs provides insight into escape-regulated gene expression.

This study examines escape from X-chromosome inactivation in female hiPSCs, revealing non-random patterns and their impact on gene expression and sex differences.

A FinnGen pilot clinical recall study for Alzheimer's disease

The paper demonstrates the feasibility of conducting clinical recall studies from the FinnGen biobank to collect customized clinical data from participants with Alzheimer's disease or mild cognitive disorder.

Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection

This study identifies genetic drivers and cellular selection signatures of mosaic X chromosome loss in women using large-scale population data and polygenic scores.

Lipidome- and genome-wide study to understand sex differences in circulatory lipids

The paper examines sex differences in circulatory lipids and their genetic determinants using lipidomics and genome-wide association studies across multiple cohorts.

Genetic variant in SPDL1 reveals novel mechanism linking pulmonary fibrosis risk and cancer protection

The paper identifies a genetic variant in SPDL1 that links pulmonary fibrosis risk and cancer protection through antagonistic pleiotropy.

Genetic analyses on the health impacts of testosterone highlight effects on female-specific diseases and sex differences

This study uses genetic data to examine testosterone's effects on health, finding sex-specific impacts on female reproductive health and complex associations with disease risk.

High-resolution population-specific recombination rates and their effect on phasing and genotype imputation

The paper maps high-resolution recombination rates in Finns and compares their impact on phasing and imputation to non-Finnish Europeans, finding minimal effect on accuracy.

Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

The paper develops S-PrediXcan to compute gene expression associations from GWAS summary data and applies it to 44 GTEx tissues and 100+ phenotypes, finding tissue-specific effects and colocalized associations.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Transcriptome sequencing improves the diagnostic rate for Mendelian disease in patients for whom genetic analysis has not returned a diagnosis.

Landscape of X chromosome inactivation across human tissues

This paper systematically surveys X chromosome inactivation across human tissues using transcriptomic and genomic data, finding that XCI is generally uniform but shows heterogeneity and identifies new escape genes with sex-biased expression.

Analysis of protein-coding genetic variation in 60,706 humans

This paper analyzes protein-coding genetic variation in 60,706 humans to catalog diversity, assess pathogenicity, and identify genes under strong selection.

Mergeomics: integration of diverse genomics resources to identify pathogenic perturbations to biological systems

Mergeomics integrates diverse genomics resources to identify pathogenic perturbations by analyzing disease-associated pathways and gene networks, revealing novel cholesterol regulators.