Explore the latest in genetics and genomics, including cancer genetics, neurogenetics, and pharmacogenetics.
This cross-sectional study investigates sex differences in the association between FTO single-nucleotide variants and obesity traits among self-identified non-Hispanic Black and non-Hispanic White US adults.
This cohort study investigates the incidence of colorectal cancer and prevalence of adenomas and other precursor lesions among adults younger than 50 years in Austria.
This Viewpoint discusses proposed and enacted state legislation to protect genetic privacy for those participating in direct-to-consumer genetic testing and ensuring genetic antidiscrimination for life, health, long-term care, and disability insurance.
This case report describes the evaluation of 16-year-old twins with chromosomal microarray and mirror movements.
This cohort study evaluates risk variants in a large high-myopia cohort and the implications of genetic testing of schoolchildren with high myopia.
This case report describes a patient in their 30s with ventricular tachycardia and coexisting atrioventricular block and atrial fibrillation with normal cardiac structure and function.
This genetic association study assesses associations between apolipoprotein E and Alzheimer disease risk across age, sex, race and ethnicity, and global population ancestry.
This quality improvement study examines the effectiveness of a learning program for molecular tumor boards to share best practices for providing optimal treatment recommendations in 50 identical simulated cases of advanced cancer.
This cross-sectional study investigates the association of KRAS sequence variation with survival among patients with young- vs late-onset colorectal cancer.
This cohort study examines associations of residential racial and ethnic segregation and census tract–level poverty with DNA methylation age using 4 DNA methylation clocks.
In this narrative medicine essay, a family medicine physician whose daughter was born with a 50% chance of having the Huntingtin gene embraces the joy of the present over the fear of the future.
A 31-year-old woman was seen with contractures in her fingers and toes, carpal inversion, dysarthria, dysphagia, hypertonia, decreased tendon reflexes, absence of Babinski sign, and no psychiatric problems and significant global atrophy. What is your diagnosis?
This cohort study compares the outcomes of patients with BRCA1 and BRCA-related pancreatic cancers using 2 large data sets.
This systematic review and meta-analysis explores whether exome sequencing should be used as a test for the molecular diagnosis of congenital hydrocephalus.
This Viewpoint discusses genetic counseling for predictive retinal imaging.
This Viewpoint explains the genetic association between Alzheimer disease and Down syndrome and the negative impact of excluding people with Down syndrome from clinical trials on treatment for Alzheimer disease.
Customize your JAMA Network experience by selecting one or more topics from the list below.