Next-generation sequencing and massively parallel analysis of gene expression: uses in clinical diagnostics

作者：Cullen Paul^*; Hoffmann Georg; Klein Hanns Georg; Funke Harald

来源：Journal of Laboratory Medicine, 2010, 34(6): 349-356.

DOI：10.1515/JLM.2010.060

• gene expression analysis
• molecular diagnostics
• next-generation sequencing

The progress that has been made in the field of high-throughput sequencing is such that even experts in the field are impressed. At the time of writing, it is possible to sequence an entire genome within a few days for < (sic)50,000. Thus, we are rapidly entering the era of the "thousand-Euro genome" or even the "hundred-Euro genome", a price at which whole-genome sequencing can be considered for inclusion in routine diagnostic workups. The current uses of high-throughput sequencing include research in epigenomics, population and medical genetics, tumor genetics, and in the analysis of gene expression. The emphasis of our conference in 2009 was on the possible uses of "next-generation" sequencing in medical diagnostics in the future. Other topics include the bioinformatic analysis of very large datasets and techniques in gene expression analysis. Other high-throughput methods of gene analysis, such as mass spectrometry, are also discussed.

• 出版日期2010