Jeppe Dyrberg Andersen

Postmortem DNA methylation profiling uncovers signatures associated with left ventricle size

The paper identifies DNA methylation signatures in cardiac ventricles associated with left ventricle size using postmortem samples.

ECHO: a nanopore sequencing-based workflow for (epi)genetic profiling of the human repeatome

ECHO is a nanopore sequencing pipeline for comprehensive (epi)genetic analysis of the human repeatome, enabling haplotype-resolved and methylation-informative studies.

Discovery and characterization of highly polymorphic ultra-short STRs for human identification via shotgun sequencing

This paper identifies and validates ultra-short STRs for human identification using shotgun sequencing, showing they are highly polymorphic and suitable for degraded DNA analysis.

CALM1, CALM2, and CALM3 expression and translation efficiency provide insight into the severity of calmodulinopathy

The paper compares the clinical impact of missense variants in CALM1, CALM2, and CALM3 genes by analyzing expression levels and translation efficiency in cardiac tissue.

SNP calling for the Illumina Infinium Omni5-4 SNP BeadChip kit using the butterfly method

The paper introduces the butterfly method for SNP calling using the Illumina Infinium Omni5-4 BeadChip kit, achieving high call rates and concordance with WGS data.