Ponte Academic Journal Mar 2014, Volume 70, Issue 3 |
How High-Throughput Sequencing Data will enable the Emergence of Clinical Genomics Author(s): Youkharibache P, Klingenhoff A, Scherf M, Seifert M J. Ponte - Mar 2014 - Volume 70 - Issue 3 Abstract: Genomatix has been at the forefront of genomics, from microarrays to next generation sequencing applications [A Global View of Gene Activity and Alternative Splicing by Deep Sequencing of the Human Transcriptome, Science 321, 956 (2008); Sultan, et al]. Its innovative data analysis software and thoroughly annotated genome databases are used by research scientists worldwide to study links between genomic information and diseases. The cost of whole-genome sequencing is going down at an accelerated pace, and many new genomics applications are now enabled. Clinical Genomics is certainly one of the most promising applications that can be envisioned, with the ability to use high throughput sequencing for the study of human genetics in the context of clinical studies. We will review how sequencing data can be analyzed to allow clinical studies, what the current challenges are, and the costs involved.
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