European journal of human genetics : EJHG
Jan 13, 2025
Artificial intelligence (AI) has been growing more powerful and accessible, and will increasingly impact many areas, including virtually all aspects of medicine and biomedical research. This review focuses on previous, current, and especially emergin...
European journal of human genetics : EJHG
May 29, 2023
Large-language models like ChatGPT have recently received a great deal of attention. One area of interest pertains to how these models could be used in biomedical contexts, including related to human genetics. To assess one facet of this, we compared...
European journal of human genetics : EJHG
Jul 19, 2021
A primary challenge in understanding disease biology from genome-wide association studies (GWAS) arises from the inability to directly implicate causal genes from association data. Integration of multiple-omics data sources potentially provides impor...
European journal of human genetics : EJHG
Jul 19, 2021
Patients with rare diseases are a major challenge for healthcare systems. These patients face three major obstacles: late diagnosis and misdiagnosis, lack of proper response to therapies, and absence of valid monitoring tools. We reviewed the relevan...