Johannes Helmuth

Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci

This study evaluates the accuracy of next-generation sequencing in capturing allele frequencies for polygenic risk score loci in breast cancer, finding significant deviations affecting risk prediction.

Preformed Chromatin Topology Assists TranscriptionalRobustness of Shh during Limb Development

The paper shows that preformed chromatin topology supports robust Shh transcription during limb development, with CTCF and ZRS alleles influencing enhancer-promoter communication.

normR: Regime enrichment calling for ChIP-seq data

normR normalizes ChIP-seq data to improve enrichment calling in different histone modification regimes.

The haplotype-resolved genome sequence of hexaploid Ipomoea batatas reveals its evolutionary history

This paper presents a half haplotype-resolved genome of hexaploid Ipomoea batatas, revealing two ancient whole genome duplication events and specialized compound biosynthesis gene clusters.