Expanding DNA diagnostic panel testing: is more better?

作者: Eric W Klee , Nicole L Hoppman-Chaney , Matthew J Ferber

DOI: 10.1586/ERM.11.58

关键词: Massively parallelPersonal genomicsHuman genomeDNA sequencingWhole genome sequencingComputational biologyBioinformaticsResource (project management)Exome sequencingTest (assessment)Biology

摘要: During the last 25 years, a small number of meaningful DNA-based diagnostic tests have been available to aid in diagnosis and subsequent treatment heritable disorders. These targeted limited genes are often ordered serial testing strategies which results from one preliminary test dictate orders. This approach can be both time resource intensive when patient requires several sequenced. Recently, there has much discussion regarding how ‘massively parallel’ or ‘next-generation’ DNA sequencing will impact clinical care. While technology promises reduce cost an entire human genome less than US$1000, must question utility complete for routine testing, given many interpretive challenges posed by this approach. At present, it appears next-generation may provide greatest benefit enabling comprehensive mu...

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