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Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
Published on: October 18, 2013
Massively parallel sequencing for diagnosing clinically and genetically heterogeneous disorders
1Medical Genetics Laboratories, Department of Molecular & Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA. wzhang2@bcm.edu.
Abstract:
Massively parallel sequencing technology has great potential to identify the precise molecular causes of human disorders, which were once considered difficult to diagnose for either inherited Mendelian or oncological diseases. Besides being a valuable tool for gene discovery, this technology has also gained tremendous momentum in clinical molecular diagnostic laboratories. There are a wide variety of clinical applications recently developed to meet the clinical demands for personalized medicine. This article discusses these up-to-date massively parallel sequencing clinical applications and emphasizes various disorders that can be targeted, as well as some challenges faced in the process of implementing these assays in the clinical setting.
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