Robert L. Wappel

Exploring the genetic and epigenetic underpinnings of early-onset cancers: Variant prioritization for long read whole genome sequencing from family cancer pedigrees

This study uses long-read whole genome sequencing from family cancer pedigrees to prioritize genetic variants in early-onset cancers, identifying potential disease-causing mutations.

Using deep long-read RNAseq in Alzheimer's disease brain to assess medical relevance of RNA isoform diversity

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

High resolution copy number inference in cancer using short-molecule nanopore sequencing

This paper demonstrates that sequencing short DNA molecules with nanopore sequencing improves copy number inference in cancer, offering higher sensitivity and accuracy compared to traditional methods.

Comprehensive analysis of structural variants in breast cancer genomes using single molecule sequencing

This study uses long-read sequencing to identify structural variants in breast cancer genomes, showing high accuracy and sensitivity compared to short-read methods.