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, […]
This case report in Blood Cells, Molecules and Diseases describes a patient with myelofibrosis who was sequenced with our hematopoietic disorders gene set. Analysis revealed very rare, concurrent pathogenic mutations in MPL. View all of our publications.
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 […]