Deep sequencing of patient genomes for disease diagnosis: when will it become routine?

Sci Transl Med 2011 Jun;3(87):87ps23

National Center for Genome Resources, Santa Fe, NM 87505, USA.

Next-generation sequencing technologies have greatly lowered the cost of whole-genome sequencing (WGS) and related approaches. Thus, comprehensive sequencing for diagnostic purposes may clear this financial hurdle in the near future. The report by Bainbridge and colleagues in this issue of Science Translational Medicine illustrates the diagnostic power of WGS. In this Perspective, we discuss whether and how genome sequencing might become routine for clinical diagnosis.

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Source
http://stm.sciencemag.org/cgi/doi/10.1126/scitranslmed.30026
Publisher Site
http://dx.doi.org/10.1126/scitranslmed.3002695DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4264992PMC
June 2011
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