Publications by authors named "Kyran Wissink"
Background: Large language models (LLMs) are increasingly used in the medical field for diverse applications including differential diagnostic support. The estimated training data used to create LLMs such as the Generative Pretrained Transformer (GPT) predominantly consist of English-language texts, but LLMs could be used across the globe to support diagnostics if language barriers could be overcome. Initial pilot studies on the utility of LLMs for differential diagnosis in languages other than English have shown promise, but a large-scale assessment on the relative performance of these models in a variety of European and non-European languages on a comprehensive corpus of challenging rare-disease cases is lacking.
View Article and Find Full Text PDFMitochondria are present in almost all eukaryotic lineages. The mitochondrial genomes (mitogenomes) evolve separately from nuclear genomes, and they can therefore provide relevant insights into the evolution of their host species. is a major fungal plant pathogen that is assumed to reproduce clonally.
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- The GA4GH Phenopacket Schema, released in 2022 and approved as a standard by ISO, allows the sharing of clinical and genomic data, including phenotypic descriptions and genetic information, to aid in genomic diagnostics.
- Phenopacket Store Version 0.1.19 offers a collection of 6668 phenopackets linked to various diseases and genes, making it a crucial resource for testing algorithms and software in genomic research.
- This collection represents the first extensive case-level, standardized phenotypic information sourced from medical literature, supporting advancements in diagnostic genomics and machine learning applications.
Article Synopsis
- - Large language models (LLMs) are being tested for their ability to help diagnose genetic diseases, but their evaluation is complicated due to how they generate unstructured responses.
- - Researchers benchmarked LLMs against 5,213 case reports using established phenotypic criteria and compared their performance to a traditional diagnostic tool, Exomiser.
- - The best-performing LLM correctly diagnosed cases 23.6% of the time, while Exomiser achieved 35.5%, indicating that while LLMs are improving, they still lag behind conventional bioinformatics methods and need further research for effective integration into diagnostic processes.
The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual, including phenotypic descriptions, numerical measurements, genetic information, diagnoses, and treatments. A phenopacket can be used as an input file for software that supports phenotype-driven genomic diagnostics and for algorithms that facilitate patient classification and stratification for identifying new diseases and treatments. There has been a great need for a collection of phenopackets to test software pipelines and algorithms.
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