Christian Fuchsberger

Beyond the classical plasma secretome: genetic architecture and disease associations of the expanded human plasma proteome in 13,445 Europeans

This study expands the human plasma proteome analysis using an enhanced SomaScan platform, identifying new genetic associations and disease mechanisms beyond the classical secretome.

Bridging the gap between genome-wide association studies and network medicine with GNExT

GNExT is a web-based platform that integrates GWAS data with systems medicine approaches to identify potential drug repurposing candidates and enable large-scale network medicine investigations.

A reference panel for linkage disequilibrium and genotype imputation using whole-genome sequencing data from 2,680 participants across India

The paper constructs a large-scale LD and genotype imputation reference panel using whole-genome sequencing data from 2,680 Indian participants, improving imputation accuracy and polygenic risk score performance.

Genome-Wide Association Study Meta-Analysis Uncovers Novel Genetic Variants Associated with Olfactory Dysfunction

This paper identifies a novel genetic locus associated with olfactory dysfunction through a genome-wide association study meta-analysis and shows causal links to various health outcomes.

Genomic and molecular evidence that the lncRNA DSP-AS1 modulates Desmoplakin expression

The paper identifies a variant in DSP associated with QRS interval and shows that DSP-AS1 regulates DSP expression through functional and Mendelian randomization analyses.

Whole genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles.

This study uses whole genome sequencing to identify 18 novel genetic loci associated with plasma fibrinogen levels, including variants more common in African populations and linked to liver-related traits and disease.

Taxonize-gb: A tool for filtering GenBank non-redundant databases based on taxonomy

Taxonize-gb filters GenBank databases based on taxonomy to create tailored reference databases for metagenomic analysis.

Performing highly parallelized and reproducible GWAS analysis on biobank-scale data

The paper presents a Nextflow pipeline for scalable and reproducible GWAS analysis on large biobank datasets, validated against published datasets and tested on HPC and cloud infrastructures.

Antithrombin, protein C and protein S: Genome and transcriptome wide association studies identify 7 novel loci regulating plasma levels

Genome-wide association study reveals loci with sex-specific effects on plasma bile acids

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

Genetic analyses of the QT interval and its components in over 250K individuals identifies new loci and pathways affecting ventricular depolarization and repolarization

A statistical genetics guide to identifying HLA alleles driving complex disease

This paper provides a statistical genetics guide for imputing HLA alleles from genotype data and offers best practices for association testing to identify HLA variants driving complex diseases.

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.

A Saturated Map of Common Genetic Variants Associated with Human Height from 5.4 Million Individuals of Diverse Ancestries

This study identifies 12,111 SNPs associated with height from 5.4 million individuals, explaining most common SNP-based heritability and showing ancestry-specific prediction accuracy.

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

Over 400 million variants, 97% below 1% frequency, emerge from deep whole-genome sequencing of 53,831 diverse TOPMed participants; TOPMed haplotypes enable imputation down to ~0.01% frequency.

South Asian patient population genetics reveal strong founder effects and high rates of homozygosity - new resources for precision medicine

The paper characterizes the genetic structure of South Asian populations, identifies founder effects and high homozygosity, and develops a custom SNP array for genetic studies in the region.

Sequencing and Imputation in GWAS: Cost-Effective Strategies to Increase Power and Genomic Coverage Across Diverse Populations

This study evaluates cost-effective GWAS strategies combining sequencing and array genotyping to improve power and genomic coverage in diverse populations.

KCND3 is a novel susceptibility locus for early repolarization

This study identifies a genome-wide significant association between a variant in the KCND3 gene and early repolarization pattern on ECG, suggesting a genetic basis for this trait.

Loss-of-function genomic variants with impact on liver-related blood traits highlight potential therapeutic targets for cardiovascular disease

The paper identifies loss-of-function variants affecting liver-related blood traits that reduce CVD risk without increasing metabolic disease risk, highlighting potential therapeutic targets.

Imputation aware tag SNP selection to improve power for multi-ethnic association studies

This paper develops a method to select tag SNPs for multi-ethnic association studies, showing improved imputation power by considering population-specific linkage disequilibrium and demographic impacts.

Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries

This study identifies rare genetic variants associated with type 2 diabetes using exome sequencing of 20,791 cases and 24,440 controls, and provides a Bayesian framework to improve variant prioritization.

emeraLD: Rapid Linkage Disequilibrium Estimation with Massive Data Sets

emeraLD rapidly estimates linkage disequilibrium using sparsity and haplotype structure, improving efficiency for large genetic datasets.

Narrow-sense heritability estimation of complex traits using identity-by-descent information.

This paper estimates narrow-sense heritability using identity-by-descent information in unrelated individuals and finds that IBD-based methods can capture rare variant contributions but are affected by stratification.

Improving power for rare variant tests by integrating external controls

The paper introduces methods to improve power for rare variant tests by integrating external controls while controlling type I error rates.

Reference-based phasing using the Haplotype Reference Consortium panel

This paper introduces Eagle2, a reference-based phasing algorithm that improves accuracy and speed compared to SHAPEIT2 using the Haplotype Reference Consortium panel.