Barbara Uszczyńska-Ratajczak

The paper introduces CapTrap-seq, a long-read sequencing method for zebrafish, improving transcriptome accuracy by capturing full-length transcripts and novel spliced isoforms.

The paper expands the lncRNA catalog using capture long-read RNA sequencing, significantly increasing the number of annotated transcripts in human and mouse genomes.

The paper introduces CapTrap-seq, a method for full-length RNA transcript sequencing, and shows it produces highly accurate transcript models in human tissues.

The paper profiles subcellular localization of nuclear-encoded mitochondrial gene products in zebrafish by analyzing RNA from different cellular fractions and quantifying transcriptomic changes in a chchd4a-/- mutation.

The paper shows that mitochondrial protein import defects lead to cytosolic aggregation of proteins, disrupting homeostasis and contributing to neurodegenerative disease mechanisms.

The paper updates gene annotations for 191 epilepsy genes, reclassifying variants and identifying new de novo SCN1A variants in Dravet syndrome patients.

The paper reanalyzes the CHESS database's new protein-coding predictions and finds most are false positives due to homology errors and lack of experimental evidence.

The paper introduces RNA Capture Long Seq (CLS) to annotate full-length lncRNAs with high throughput and accuracy, doubling annotated complexity compared to short-read methods.