Understanding Bioinformatics Workflows for NGS Analysis: Case Study with Whole-exome Sequencing Data
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 ...
GAITHERSBURG, Md.--(BUSINESS WIRE)--GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic insights, announced today its launch on Aura, Epic’s specialty diagnostics ...
To address these limitations, we developed noninvasive prenatal screening using deep trio-exome sequencing; this comprehensive noninvasive method has high sensitivity for detecting fetal ...
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