Sulev Kõks

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 identifies the GCH1 p.Ser80Asn variant as a rare, East Asian-enriched risk factor for Parkinson's disease with increased odds ratio and specific clinical features.

This study conducts a genome-wide association study of copy number variations in Parkinson's disease, identifying a significant PRKN deletion but limited replication in an independent dataset.

This study identifies genetic risk factors associated with severe psoriasis and shows that polygenic risk scores can predict severe disease outcomes better than traditional risk factors.

This study identifies genetic associations between lysosomal genes and Parkinson's disease risk across diverse populations using GWAS and whole genome sequencing data.

This study compares polygenic risk scores for Parkinson's disease across seven ancestries, finding varying predictive accuracy and highlighting the need for ancestry-specific models.

This study uses Mendelian randomisation to identify causal metabolome-wide effects on psychiatric and neurodegenerative disorders, finding 85 significant associations and shared genetic variants.

This study uses polygenic and transcriptional risk scores to analyze psychiatric and cognitive symptoms in Parkinson's disease, finding distinct associations between genetic and transcriptional risks and symptom progression.

This study performs a GWAS meta-analysis of psoriasis, identifying 109 susceptibility loci, including 45 new ones, and highlights potential therapeutic targets and disease mechanisms.

The paper identifies RNA biomarker signatures in whole blood transcriptomes of MND patients compared to controls, highlighting differentially expressed genes and associated molecular pathways.

This paper conducts a multi-ancestry genome-wide meta-analysis of Parkinson's disease, identifying 78 independent loci and 23 genes associated with PD risk.

The paper outlines the protocol for integrating genetic and clinical data from a global cohort of over 150,000 participants to study the genetic causes of sporadic Parkinson's disease.

This study investigates the genetic relationship between depression symptoms and Alzheimer's disease using GWAS and finds significant genetic correlations but no causal link, suggesting proxy cases may drive the overlap.

The paper investigates how mitochondrial function affects ALS severity but not risk, identifying specific genetic and expression factors linked to disease progression.

This study analyzes intronic RNA-Seq data from Parkinson's Disease patients over time, revealing significant changes in nascent transcription specific to the disease.

The paper presents whole-genome and whole-exome sequencing datasets from a multi-center, cross-platform study to benchmark NGS technologies and bioinformatics pipelines in cancer genomics.

The paper establishes reference samples with high-coverage whole-genome sequencing to create truth sets for somatic mutation and germline variant detection using NGS technologies.

This study evaluates reproducibility and accuracy of cancer mutation detection using whole-genome and whole-exome sequencing across multiple sequencing centers and bioinformatics pipelines.

The paper estimates admixture dates and identifies source populations for genetic components in Indian Austroasiatic speakers using genome-wide data.