Graham Scott Erwin

Cell-type-resolved somatic variant discovery from bulk long-read sequencing

SniffCell assigns somatic variants to cell types using DNA methylation from bulk long-read sequencing, revealing cell-type-specific mutations in human tissues.

DNA-FISH Metaphase Spreads to Distinguish Extrachromosomal DNA from Homogeneously Staining Regions in Human Cancer Cell Lines

The paper presents a DNA-FISH protocol to distinguish extrachromosomal DNA from HSRs in cancer cell lines using metaphase spreads and locus-specific probes.

Whole-genome variant detection in long-read sequencing data from ultra-low input patient samples

This study evaluates ULI-HiFi and dMDA for long-read sequencing of low-input samples, finding ULI-HiFi achieves higher variant detection accuracy and reveals disease-relevant genetic changes in a FAP patient.

A computational model for quantifying instability of tandem repeats across the genome

The paper introduces a computational model to quantify tandem repeat instability using long-read sequencing data and applies it to identify unstable alleles in 256 HPRC cell lines.

A genome-wide atlas of recurrent repeat expansions in human cancer

The paper identifies recurrent repeat expansions in cancer genomes, showing their association with gene regulation and demonstrating their therapeutic targeting potential.