Christoffer Flensburg

The paper investigates DNA repair pathways that protect against methylation damage, showing that Mbd4 and MutSα cooperate to prevent spontaneous deamination of 5-methylcytosine.

The paper develops FLT-seq and FLAMES to characterize full-length isoforms in single cells of human and mouse, identifying thousands of unannotated isoforms and linking them to functional modules and drug resistance mutations.

This paper introduces SuperFreq, a method to detect copy number alterations from RNA-Seq data, showing high agreement with DNA-based calls in cancer genomes.

The paper quantifies mismatch repair (MMR) activity in human tissues by analyzing mutation rates in individuals with constitutional MMR deficiency, revealing genotype-specific mutational signatures and the role of MMR components in DNA repair.

The paper evaluates the impact of library size on variant detection sensitivity in RNA-seq, finding that 30M-40M fragments are needed to recover 90%-95% of variants in recurrently mutated myeloid genes.

SuperFreq detects mutations and tracks clones in cancer samples without requiring matched normal samples, achieving high accuracy in identifying clones and mutations.

This study shows that germline MBD4 loss causes AML with high C>T mutations due to 5mC deamination, and highlights interactions with somatic DNMT3A mutations.

This study analyzes DNA and RNA sequencing data from follicular lymphoma patients to identify mutations and transcriptional changes during transformation to diffuse large B cell lymphoma.

This study compares WCE and H3 ChIP-seq as control samples for histone modification ChIP-seq, finding minor differences but negligible impact on analysis quality.