Oliver Hofmann

TL;DR: A novel proximal promoter (P6) is identified within CD133+ melanoma cell lines and stem cells and is enriched with respect to previously characterized PROM1 promoters for a HMGI/Y (HMGA1) family transcription factor binding site motif and exhibits different epigenetic modifications relative to the canonical promoter region ofPROM1.

TL;DR: Fast-reaction studies have been used to determine the rate constants of the oxygen association and dissociation processes occurring in the R-state and the rate of the allosteric R > T conformational transition and suggest a likely reason for the high affinity and low co-operativity of the embryonic proteins.

TL;DR: The Cancer Predisposition Sequencing Reporter (CPSR), an open-source computational workflow that generates a structured report of germline variants identified in known cancer predisposition genes, highlighting markers of therapeutic, prognostic, and diagnostic relevance, demonstrates superior sensitivity and comparable specificity for the detection of pathogenic variants when compared to existing algorithms.

TL;DR: This study illustrates some of the challenges faced in fine-mapping studies in the post-GWAS era, most importantly the large sample sizes needed to identify rare-variant associations or to distinguish the effects of strongly correlated common SNVs.

TL;DR: The ab-initio approach outperforms the other methods for prioritizing disease-associated genes under the potential control of sex hormones and has a potential to be adapted to prioritize genes relevant to other diseases.