PUBLICATION: Utility of Clinical High-Depth Next Generation Sequencing for Somatic Variant Detection in the PIK3CA Related Overgrowth Spectrum

GPS faculty recently published a paper in Clinical Genetics that describes how NGS is being used in PIK3CA related overgrowth syndromes. View all of our publications. Abstract from PubMed Next-generation sequencing (NGS) has revolutionized the approach of studying sequence variation, and has been well described in the clinical laboratory setting for the detection of constitutional alterations, […]

PUBLICATION: Occult Specimen Contamination in Routine Clinical Next-Generation Sequencing Testing

GPS faculty recently published a paper in American Journal of Clinical Pathology that describes a new method to detect specimen admixture in NGS testing. Abstract from PubMed OBJECTIVES: To evaluate the extent of human-to-human specimen contamination in clinical next-generation sequencing (NGS) data. METHODS: Using haplotype analysis to detect specimen admixture, with orthogonal validation by short tandem repeat […]