Daniel Nilsson

This paper evaluates the clinical use of long-read genome sequencing in Sweden, showing it provides molecular diagnoses and reduces diagnostic costs.

The paper identifies 14 individuals with biallelic RNU2-2 variants causing a severe developmental and epileptic encephalopathy, supported by phenotyping and fibroblast RNA sequencing.

This study identifies a GGC expansion in the ZFHX3 gene as the cause of SCA4, associated with dysautonomia and motor neuron signs.

pyCancerSig integrates SNV, SV, and MSI data to classify cancer subtypes and identify mutational signatures from whole genome sequencing data.

SweGen provides a high-quality whole-genome map of genetic variation in the Swedish population, useful for clinical genetics and association studies.