Kyran Wissink

This study benchmarks large language models against a traditional diagnostic tool for genetic disease diagnosis using 5,213 case reports, finding LLMs lag behind in accuracy.

The paper constructs a pangenome variation graph for Fusarium oxysporum to study accessory chromosomes, identifying their variability and evolutionary dynamics.

This paper constructs a pan-mitogenome graph of nearly 500 Fusarium oxysporum mitogenomes to reveal frequent recombination and genetic variation, challenging the assumption of clonal reproduction.

The paper presents a large-scale corpus of standardized phenopackets for genomic diagnostics and discovery, curated from literature and useful for software testing and genotype-phenotype analysis.