There has been remarkable progress in identifying the causes of genetic conditions as well as understanding how changes in specific genes cause disease. Though difficult (and often superficial) to parse, an interesting tension involves emphasis on ba...
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...
INTRODUCTION: Artificial intelligence is increasingly used in medical education and testing. ChatGPT, developed by OpenAI, has shown mixed results on various medical exams, but its performance in medical laboratory genetics remains unknown.
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...
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