Kjeld Schmiegelow

This paper introduces DoBSeq, a low-cost framework for detecting rare variants in population-scale genetic screening, achieving 95% variant detection and recovering all clinically relevant pathogenic variants in ACMG genes.

DoBSeqWF is a pipeline for analyzing pooled sequencing data to detect rare genetic variants, improving sensitivity with machine learning filters.

This study identifies gene expression markers that distinguish pediatric B-cell and T-cell acute lymphoblastic leukemia subtypes and shows their association with patient survival.

RosettaDDGPrediction enables high-throughput calculation of free energy changes from amino acid substitutions using Rosetta, with tools for data aggregation and visualization.

This study identifies 10% of pediatric CNS tumors as being caused by rare germline variants in known cancer predisposition genes through whole-genome sequencing and evolutionary constraint analysis.

This study identifies NT5C2 germline variants affecting 6-MP metabolism in ALL patients, showing two independent variants influence TGN levels.