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...
Artificial intelligence (AI) is the development of computer systems that are able to perform tasks that normally require human intelligence. Advances in AI software and hardware, especially deep learning algorithms and the graphics processing units (...
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 ...
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 ...
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...
Genetics in medicine : official journal of the American College of Medical Genetics
35612590
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...
American journal of medical genetics. Part C, Seminars in medical genetics
37565625
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...
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...
European journal of human genetics : EJHG
39806188
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...