Nathan O. Stitziel

Pangenome-based human genome analysis improves trait association and genomic prediction

This paper develops a pangenome-based method to improve trait association and genomic prediction by capturing complex genetic variation missed by traditional approaches.

NERINE reveals rare variant associations in gene networks across phenotypes and implicates an SNCA-PRL-LRRK2 subnetwork in Parkinson's disease

NERINE tests gene network hypotheses with rare variant associations, identifying a subnetwork linked to Parkinson's disease.

Genealogy based trait association with LOCATER boosts power at loci with allelic heterogeneity

The paper introduces LOCATER, a genealogy-based method that improves trait association power by leveraging haplotype diversity and allelic heterogeneity, identifying novel associations and recovering known loci in a Finnish cohort.

Fully T2T pedigree assemblies reveal genetic stability and epigenetic plasticity of human centromeres across inheritance and cell-fate transitions

The paper uses fully phased telomere-to-telomere assemblies and long-read epigenomes to study centromere genetic and epigenetic dynamics across inheritance and cell-fate transitions, finding positional stability of CDRs and dynamic epigenetic changes.

Targeting Modulated Vascular Smooth Muscle Cells in Atherosclerosis via FAP-Directed Immunotherapy

Single-cell and spatial maps of human coronary arteries identify FAP as a marker of SMC-derived modulated cells; an anti-FAP BiTE reduced plaque burden in mouse models.

Complete genomes of a multi-generational pedigree to expand studies of genetic and epigenetic inheritance

The paper presents T2T reference genomes from a multi-generational pedigree to study genetic and epigenetic inheritance across the complete genome.

Enhancer-targeting CRISPR screens at coronary artery disease loci suggest shared mechanisms of disease risk

The paper identifies causal genetic mechanisms at CAD GWAS loci using CRISPR screens and chromatin analysis, revealing enhancer-gene links and ancestry/sex-specific risk factors.

LRRC8 complexes are adenosine nucleotide release channels regulating platelet activation and arterial thrombosis

This study identifies LRRC8 complexes as ATP/ADP release channels in platelets that regulate thrombosis by modulating calcium and PI3K-AKT signaling through P2X1, P2Y1, and P2Y12 receptors.

Endothelial lipase facilitates low-density lipoprotein (LDL) uptake in LDL receptor deficiency by a heparan sulfate proteoglycan-dependent mechanism.

This study shows endothelial lipase (EL) enables LDL uptake in LDLR-deficient cells via heparan sulfate proteoglycans, highlighting a new pathway for LDL cholesterol reduction.

Variant Set Distillation

The paper introduces vsdistill, a method for improving power in genomics by distilling variant sets, and demonstrates its effectiveness through simulations and UK Biobank analysis.

Single cell variant to enhancer to gene map for coronary artery disease

This paper links CAD GWAS variants to causal genes in SMCs using single-cell chromatin accessibility and Hi-C data, creating a scV2E2G map for disease mechanism discovery.

A Paradigm For Calling Sequence In Families: The Long Life Family Study

The paper describes a system for quality assurance of whole genome sequence data in family studies, focusing on identifying germline variants and improving call accuracy through family-based filters.

Automated assembly of high-quality diploid human reference genomes

The paper evaluates sequencing and assembly methods to create high-quality diploid human genome assemblies, finding that long reads and haplotype sorting improve accuracy and completeness.

Genome-wide association study of 1,391 plasma metabolites in 6,136 Finnish men identifies 303 novel signals and provides biological insights into human diseases

This study identifies 303 novel genetic signals associated with plasma metabolites in Finnish men, revealing biological insights into disease mechanisms.

Distribution of 54 polygenic risk scores for common diseases in long lived individuals and their offspring

The paper evaluates 54 polygenic risk scores in long-lived individuals and their offspring, finding lower genetic risk for Alzheimer's, CAD, and lupus, but not for dementia in long-lived individuals.

Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences

Association of Structural Variation with Cardiometabolic Traits in Finns

This study identifies 31 genome-wide significant associations between structural variations and cardiometabolic traits in Finns, including two novel loci with strong phenotypic effects.

SVEP1, a novel human coronary artery disease locus, promotes atherosclerosis

This study identifies SVEP1 as a novel coronary artery disease locus that promotes atherosclerosis by affecting vascular smooth muscle cell function and signaling pathways.

Non-parametric polygenic risk prediction using partitioned GWAS summary statistics

This paper introduces a non-parametric polygenic risk prediction method using GWAS summary statistics, improving prediction accuracy for several diseases.

Exome sequencing identifies high impact trait-associated alleles enriched in Finns

Exome sequencing in Finnish populations identifies rare trait-associated alleles with higher frequencies and geographical clustering, revealing 30 novel associations with quantitative traits.

Mapping and characterization of structural variation in 17,795 deeply sequenced human genomes

The paper maps and characterizes structural variants in 17,795 human genomes, revealing their frequency, impact, and relationship to gene dosage and regulatory elements.

Genetics of human plasma lipidome: Understanding lipid metabolism and its link to diseases beyond traditional lipids

The paper conducts GWAS and PheWAS on plasma lipid species to identify genetic associations and their links to diseases beyond traditional lipid measures.