Mark Ebbert

The paper identifies tau as an m6A-associated RNA binding protein that causes RNA dysregulation in MAPT coding-variant patients and V337M iNeurons.

The paper develops a computational framework to contextualize novel isoforms identified through long-read single-cell RNA sequencing by integrating pathway analysis with expression-based neighborhoods.

The paper identifies age-associated B cells (ABCs) in the CNS that develop from a localized progenitor pool and contribute to impaired post-stroke recovery in mice.

The paper identifies contextual biases in the SegmentNT model, showing how input sequence length and nucleotide position affect predictions and suggests ways to mitigate these biases.

This study uses long-read single-cell sequencing to analyze isoform-level diversity in human PBMCs, identifying novel isoforms and cell-type-specific patterns.

The paper evaluates how long-read sequencing reduces dark genomic regions in the CHM13 reference genome compared to shorter-read references.

The paper shows that a synonymous variant in PILRA decreases mRNA and protein levels by disrupting a ramp sequence, providing a biological mechanism for its association with Alzheimer's disease.

RNApysoforms provides an interactive, customizable Python tool for visualizing RNA isoform structures and expression data using plotly and polars.

This study systematically reviews and meta-analyzes bulk RNAseq studies in human Alzheimer's disease brain tissue to identify differentially expressed genes and pathways.

The paper uses long-read RNAseq to identify new RNA isoforms in Alzheimer's disease brain tissue and demonstrates their medical relevance.

This study surveys RNA isoform diversity and expression across nine GTEx tissues using long-read sequencing, revealing significant tissue-specific isoform variation and validating new isoforms.

This paper creates a comprehensive benchmark for challenging medically-relevant autosomal genes, improving variant recall from 8% to 100% by addressing reference-specific false duplications.

The paper identifies dark and camouflaged gene regions in the human genome, shows how long-read sequencing reduces their prevalence, and applies an algorithm to uncover disease-relevant variants in Alzheimer's Disease Sequencing Project data.

This study demonstrates that long-read sequencing can characterize the C9orf72 G4C2 repeat expansion in disease carriers, showing potential for clinical and genetic discovery applications.