Ingo Ruczinski

The paper performs trio-based GWAS on cleft lip subtypes to identify novel genetic loci associated with specific phenotypes.

This paper introduces PGS-TRI, a framework to estimate direct and indirect polygenic effects and gene-environment interactions in case-parent trio studies, applied to autism and orofacial clefts.

This study identifies a sex-specific genetic variant affecting platelet aggregation in response to low-dose epinephrine across multiple cohorts.

This study evaluates Shapeit2 duoHMM's reliability and accuracy in inferring recombination events on whole genome sequence data compared to SNP arrays.

The paper develops gene expression prediction models for asthma-related tissues in African-ancestry populations and identifies 17 candidate causal asthma genes using transcriptome-wide association study.

RetroFun-RVS is a family-based rare-variant analysis method that integrates functional annotations to improve power and interpretability in complex disease studies.

The paper validates novel telomere length regulation genes POP5 and KBTBD6 identified through trans-ancestry GWAS using functional experiments in blood cells.

The paper develops a Bayesian hierarchical model to extract posterior distributions and ranks from protein microarray data, showing improved performance over existing methods.

The paper presents a comprehensive catalog of structural variants across 138,134 individuals, identifying novel variants and their associations with cardio-metabolic and hematologic traits.

The paper evaluates edgeR for PhIP-Seq data analysis and introduces BEER, a Bayesian framework for improved normalization and analysis.

The paper develops a pre-processing pipeline to correct technical variation in protein microarrays, showing that preprocessing impacts downstream analysis validity.

The paper shows Amerind ancestry is linked to lower LC-PUFA levels and increased cardiometabolic risk in Hispanic populations due to FADS genetic variation.

This paper develops a Bayesian method to detect copy number variants and assess their association with disease in large-scale studies, finding deletions near MYC and TUSC3 linked to pancreatic cancer.

This study uses Mendelian randomisation to show that higher serum CC-16 levels protect against COPD risk and progression, with genetic variants linked to CC-16 expression in lung tissue.

The paper identifies coding de novo mutations in whole-genome sequencing data from OFC cases and finds enrichment in genes expressed in craniofacial tissues and linked to OFC syndromes.

This paper extends the Rare Variant Sharing method to handle partial variant sharing in multiplex pedigrees, showing improved power over existing methods in simulations and real data.

The paper develops MDTS, a method for detecting de novo copy number deletions in parent-offspring trios from targeted sequencing, achieving higher precision and scalability than existing tools.

The paper introduces a z-score algorithm to improve PhIP-Seq data analysis, demonstrating better bias removal and sensitivity in identifying autoantibody targets.

This paper describes a sequential testing method for permutation-based association testing in whole-genome sequencing that controls error rates and minimizes required permutations.

The paper designs a genotyping array (ADPC) for African-specific genetic variation using whole genome sequences from the CAAPA consortium, improving GWAS for African ancestry populations.

This study identifies novel asthma susceptibility loci in individuals of African ancestry through genome-wide association analysis and admixture mapping.