NGS enables the in-depth analysis of the genome and the identification and investigation of disease-associated variants–especially when workflows include target enrichment, which focuses on specific ...

TP53 Gain-of-Function and Non–Gain-of-Function Mutations Are Associated With Differential Prognosis in Advanced Pancreatic Ductal Adenocarcinoma The study used whole-exome sequencing of tumor sample ...

In an article published in the Journal of Pediatrics, researchers based in Brazil describe the case of a nine-year-old boy admitted to hospital with multiple symptoms and overlapping conditions that ...

To address these limitations, we developed noninvasive prenatal screening using deep trio-exome sequencing; this comprehensive noninvasive method has high sensitivity for detecting fetal ...