A team led by Sihoun Hahn and Jay Shendure from Seattle Children’s Research Institute and the University of Washington present a molecular diagnostic tool for mitochondrial disease in their article titled “Next generation sequence analysis for mitochondrial disorders”, recently published in Genome Medicine. This is the 100th article published in Genome Medicine, BioMed Central’s premier medical journal, since its launch in January 2009.
Next-generation sequencing technologies herald an era when personal genome information may be used to guide medical decisions. While complete genome sequences are not yet cost-effective for routine clinical use, methods which target specific genomic regions have already become practical for disease diagnosis.
The method described by Hahn and colleagues uses array-based technology and genetic sequencing to screen patients’ DNA for variations in 362 genes which have been associated with mitochondrial disease or mitochondrial function. Thanks to its lower cost and faster turnaround, this approach could replace the protracted tests currently needed to determine some rare mitochondrial mutations and it may also lead to discovery of new mutations and genes which affect mitochondrial function.
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Assistant Editor, Genome Medicine