Explore the latest in genetics and genomics, including cancer genetics, neurogenetics, and pharmacogenetics.
This diagnostic study develops and tests a sensitive molecular assay for BRAF V600E variation detection in the remaining tissue from fine-needle aspiration biopsies of thyroid nodules.
This Viewpoint discusses specific cases of the conflation of race and genetics in the neonatal abstinence syndrome literature to point out the history behind this conflation, why it is a fallacy, what it means for the individuals the research pertains to, and what needs to be done about it.
This Viewpoint discusses the fields of psychiatry and psychology adopting an intergenerational approach in understanding the effects of racism in searching for opportunities for prevention and intervention.
This case-control study examines the association between the depth of phenotyping and estimation of the risk for major depression disorder in genetic studies.
This genetic association study examines the associations between phenotypic dimensions in schizophrenia and genetic liability to schizophrenia, other neuropsychiatric disorders, and intelligence in patients with schizophrenia.
This genetic association study investigates the genetics of depression across multiple data sets of individuals of East Asian and European descent living in different countries and within different nongenetic cultural contexts.
This Viewpoint discusses ethical considerations and use of patents for human germline editing in the context of a recent World Health Organization report and release of several auxiliary documents exploring international governance tools for human genome engineering.
This randomized clinical trial investigates the effect of whole-genome sequencing on the clinical management of acutely ill infants with suspected genetic disease.
This randomized clinical trial reports the final overall survival results of ivosidenib (AG-120)—a first-in-class, oral, small-molecule inhibitor of mutant IDH1—vs placebo for patients with unresectable or metastatic cholangiocarcinoma with with IDH1 mutation.
This cross-sectional study compares the performance of plasma amyloid-β 42/40 (Aβ42/40) measured using 8 different Aβ assays and methods in detecting abnormal brain Aβ status in patients with early Alzheimer disease.
This cohort study investigates the feasibility and utility of a modified genetic and hearing screening program among newborn infants in Nantong, China.
This cohort study describes practice patterns and outcomes associated with use of pertuzumab and trastuzumab emtansine in routine clinical practice.
This economic evaluation analyzes the cost-effectiveness of screening and prevention strategies by genotype among women with Lynch syndrome.
This cohort study of individuals with early-onset atrial fibrillation examines the prevalence of disease-associated variants in susceptibility genes for inherited cardiomyopathy and arrhythmia syndromes.
This genetic association study investigates the extent of shared genetic architecture between schizophrenia and brain cortical surface area and thickness.
This Patient Page describes pulse oximetry, hearing screening, and blood testing in newborns.
This genetic association study investigates cases of unexplained sudden cardiac death to determine the frequency of pathogenic or likely pathogenic genetic variants of inherited cardiomyopathies and arrhythmia syndromes.
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