This case series describes the diagnostic yield of whole-exome sequencing (molecular autopsy) performed postmortem on patients younger than 45 years who died unexpectedly.
Chung and coauthors conducted a case-control study in populations from Taiwan, Japan, and Malaysia and a genome-wide association study to investigate the genetic factors associated with phenytoin-related severe cutaneous adverse reactions.
In this Viewpoint, Eric Topol and colleagues discuss the effect that mobile devices as biomedical sensors could have on health care.
This prospective cohort study investigates the association of rare, potentially pathogenic variants in 2 cardiac arrhythmia susceptibility genes with arrhythmia and electrocardiographic phenotypes using electronic medical record data.
Dewey and colleagues found that depending on the sequencing platform used, there was incomplete coverage of inherited disease genes, low reproducibility of potentially clinically significant genetic variation, and uncertainty about clinically reportable findings.
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