Sissel Juul

Mahi-mahi accurately genotypes repeat expansions from nanopore sequencing data, matching orthogonal methods and identifying pathogenic alleles.

This study examines genome evolution in parthenogenetic nematodes, revealing chromosome fusions, rearrangements, and evidence of rare sexual reproduction events.

CRISPore-seq combines CRISPR perturbations with long-read transcriptomics to detect alternative splicing changes, revealing that exon skipping is common and linked to RNA-binding protein perturbations.

MethPhaser improves haplotype phasing by using methylation signals from Oxford Nanopore data, increasing phase length N50 by 3-fold with minimal error increase.

The paper introduces methods for haplotype-resolved de novo assembly using Shasta and GFAse, showing improved assembly quality with newer Oxford Nanopore reads.

This study uses single-cell transcriptomics and germline haplotype assembly to discover antibodies from human blood post-MMR vaccination, showing neutralization of measles virus.

The paper investigates DUP-TRP/INV-DUP genomic rearrangements in neurodevelopmental disorders, identifying four SV haplotypes and refining template switching points using multiple sequencing technologies.

The paper uses long-read RNA-seq data to identify new transcripts and develop a tool to analyze genetic effects on transcript structure, revealing insights into splicing regulation and variant interpretation.

Pore-C reads multi-way chromatin contacts directly off unamplified Nanopore long reads, recovering Hi-C-scale features while also resolving rearranged cancer alleles and supporting de novo assembly.

This study identifies rare paternally-inherited structural variants contributing to autism by disrupting noncoding regions and coding genes, with differential parental contributions.

This study evaluates nanopore sequencing performance on the ISS, showing no performance decrease and successful genome assembly of bacterial and mammalian samples.

This paper demonstrates direct RNA sequencing using an array of nanopores, offering advantages over traditional RNA-seq methods by avoiding amplification and reverse transcription biases.

WIMP enables rapid, real-time species identification in complex samples using MinION sequencing and bioinformatics tools within 3.5 hours.

This study uses MinION sequencing to assemble complete genomes of previously uncultured environmental bacteria, enabling genomic analysis and comparison.