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...
Artificial intelligence (AI) platforms have emerged as pivotal tools in genetics and molecular medicine, as in many other fields. The growth in patient data, identification of new diseases and phenotypes, discovery of new intracellular pathways, avai...
American journal of medical genetics. Part C, Seminars in medical genetics
Aug 10, 2023
Virtually all areas of biomedicine will be increasingly affected by applications of artificial intelligence (AI). We discuss how AI may affect fields of medical genetics, including both clinicians and laboratorians. In addition to reviewing the antic...
Genetics in medicine : official journal of the American College of Medical Genetics
May 25, 2022
Deep learning (DL) is applied in many biomedical areas. We performed a scoping review on DL in medical genetics. We first assessed 14,002 articles, of which 133 involved DL in medical genetics. DL in medical genetics increased rapidly during the stud...
A combination of emerging genomic and artificial intelligence (AI) techniques may ultimately unlock a deeper understanding of heterogeneity and biological complexities in cardiovascular diseases (CVDs), leading to advances in prognostic guidance and ...
Dysmorphology is the practice of defining the morphologic phenotype of syndromic disorders. Genomic sequencing has advanced our understanding of human variation and molecular dysmorphology has evolved in response to the science of relating embryologi...
The field of machine learning, which aims to develop computer algorithms that improve with experience, holds promise to enable computers to assist humans in the analysis of large, complex data sets. Here, we provide an overview of machine learning ap...
Genome sequencing is enabling precision medicine-tailoring treatment to the unique constellation of variants in an individual's genome. The impact of recurrent pathogenic variants is often understood, however there is a long tail of rare genetic vari...
Because of its ability to find complex patterns in high dimensional and heterogeneous data, machine learning (ML) has emerged as a critical tool for making sense of the growing amount of genetic and genomic data available. While the complexity of ML ...