Lars Feuk

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

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.

This study shows CRISPR-Cas9 induces structural variants and off-target mutations in zebrafish that persist through generations.

The paper analyzes nuclear and cytosolic transcriptomes in human brain tissue, showing significant differences in RNA expression and subcellular localization patterns.

The paper introduces amplification-free long-read sequencing protocols to detect CRISPR-Cas9 off-target binding sites, identifying many previously undetected sites that are not predicted by existing software.

R.ROSETTA is an interpretable machine learning framework that identifies biological semantics from omics data, revealing potential gene interdependencies in autism case-control studies.

The paper performs de novo assembly of two Swedish genomes, identifies novel sequences absent from GRCh38, and shows improved variant calling with these sequences.

This study develops methods to detect, quantify, and visualize circRNAs in human tissues and shows their potential as diagnostic biomarkers in blood and serum.

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