Ida Höijer

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

This study uses long-read sequencing to analyze CRISPR-Cas9 editing outcomes and mosaicism in zebrafish, revealing genetic mosaicism in founder fish and its inheritance to offspring.

The paper introduces PathSTR, a tool for analyzing tandem repeats using long-read sequencing, and demonstrates its application in a Myotonic Dystrophy type 1 case.

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.

The paper introduces Kita as a target for CRISPR/Cas9 screens in zebrafish larvae to improve the reliability and efficiency of genetic screens for complex traits.

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

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.

The paper uses a CRISPR/Cas9-based approach in zebrafish to identify genes affecting heart rate variability and confirms the role of known genes while highlighting a novel gene.

Xdrop enriches long DNA molecules from low-input samples using droplet sorting, enabling high-resolution analysis of complex genomic regions.

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

Combining amplification-free CRISPR-Cas9 targeted enrichment with Single Molecule, Real-Time (SMRT) long-read sequencing captures and sequences human repeat-expansion disease loci across HTT, FMR1, C9orf72, and ATXN10 without PCR bias.