Sebastian Schönherr

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.

Cloudgene 3 converts Nextflow pipelines into web services, enabling easy sharing and collaboration without technical expertise.

This paper demonstrates that UMI-ONT-Seq accurately detects SNPs and quantifies VNTR copy numbers in the complex KIV-2 region across multiple ancestries.

The paper analyzes genetic variation in the LPA gene using short-read sequencing to predict LP(a) concentration, finding allele-specific KIV-2 CN provides better prediction than total CN.

The paper introduces nf-test, a testing framework for Nextflow pipelines that improves reliability, reduces test time, and enhances software quality through modular and efficient testing.

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.

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.

Haplocheck detects contamination in mitochondrial and whole-genome sequencing studies using mitochondrial phylogeny, showing high concordance with nuclear DNA results.

The paper investigates the LPA KIV-2 nonsense mutation R21X in 11,000 individuals, finding it associated with lower Lp(a) levels and linked to a splice mutation, highlighting the importance of LD structure in LPA genetics.

The paper reassesses claims of mtDNA biparental inheritance from Luo et al. (2018) and finds methodological issues and inconsistencies in their findings.