Massively parallel sequencing for diagnosing clinically and genetically heterogeneous disorders

Personalized Medicine
Victor Wei Zhang

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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Methods Mentioned

BETA
biopsies
PCR
exome sequencing
targeted mutations

Software Mentioned

GATK

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