NGS: next-generation sequencing STAMP: Stanford targeted next-generation sequencing panel INTRODUCTION The molecular classification of melanomas, which can have diverse clinical and histopathologic features, is defined by the acquisition of somatic mutations. Mutations such as BRAF V600E result in constitutive activation of critical signaling pathways that promote formation of melanocytic nevi....

OBJECTIVE Next-generation sequencing technology is transforming our understanding of heterozygous familial hypercholesterolemia, including revision of prevalence estimates and attribution of polygenic effects. Here, we examined the contributions of monogenic and polygenic factors in patients with severe hypercholesterolemia referred to a specialty clinic. APPROACH AND RESULTS We applied targe...

BACKGROUND Congenital heart disease (CHD), plus cleft lip and palate (CLP) are currently the most common types of structural malformation in infants. Many genes have been investigated for their involvement in CHD with CLP. Targeted next-generation sequencing can analyze large amounts of genetic information rapidly, and thus address this question. METHODS The authors designed a targeted, next-...

Classification of pediatric brain tumors with unusual histologic and clinical features may be a diagnostic challenge to the pathologist. We present a case of a 12-year-old girl with a primary intracranial tumor. The tumor classification was not certain initially, and the site of origin and clinical behavior were unusual. Genomic characterization of the tumor using a Clinical Laboratory Improvem...