Mark E. Wadsworth

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.

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

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.