Jesper Eisfeldt

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

The paper investigates how different genome references affect inversion detection, showing that T2T-CHM13 and long-read sequencing improve resolution of challenging inversions.

This study evaluates HiFi Revio long-read sequencing for detecting chromosomal rearrangements in rare diseases, showing high accuracy for breakpoint junctions and derivative chromosome structures.

This study uses long-read sequencing to analyze the genomic architecture of single human cells, revealing high-resolution genetic variation and structural variants.

The paper identifies rare NOX4 variants in psoriatic arthritis mutilans patients that increase ROS levels, linking them to disease pathogenesis and suggesting therapeutic targets.

This study uses linked-read whole-genome sequencing to detect structural variants and copy number variations in multiple myeloma, identifying both common and private variants that affect gene regulation and molecular classification.

The paper was withdrawn due to lack of full author consent and is not intended for citation.

The paper identifies rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia, suggesting a potential link between dynein dysfunction and these conditions.

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

Sarek provides a portable and reproducible workflow for analyzing germline and somatic variants 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.