This case series of patients with advanced cancer evaluates the proportion and potential clinical implications of inherited variants detected using DNA sequencing of tumor and normal tissue compared with genetic test results based on current guidelines.
This case series of children with autism spectrum disorder compares the diagnostic yield of chromosomal microarray analysis vs whole-exome sequencing.
This case series involving children and young adults with cancer whose genomic sequencing results were the basis for clinical case recommendations charaterizes the number of clinically actionable findings and resulting patient outcomes.
To determine the molecular basis of multiple respiratory chain complex deficiencies, Taylor and coauthors used a whole-exome sequencing approach in 53 patients with biochemical evidence of multiple respiratory chain complex defects but no primary pathogenic mitochondrial DNA mutation.
This study describes the clinical and genetic characteristics of pregnant women with maternal-fetal karyotype discordance on noninvasive prenatal testing attributable to subsequently diagnosed malignancy.
This JAMA Insights article explains cell-free circulating tumor DNA and its utility in noninvasive cancer detection and characterization, prediction of treatment response, monitoring of disease relapse, and identification of mechanisms of resistance to targeted therapies.
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