What is it about?
The most rapidly evolving field of biomedical research is genomics, from the first draft of the complete human genome sequence a decade ago to the estimated 30,000 whole-genome sequencing at the end of 2011. The planned development of multiple next-generation sequencing machines worldwide reflects the high level of interest in genomics within the scientific community.
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Why is it important?
The planned development of multiple NGS machines worldwide reflects the high level of interest in genomics within the scientif ic communit y. There are many reasons for this increase. First, genome sequencing appears to be essential for completing mutation catalogues and understanding the wide genetic variation involved in the pathogenesis of most diseases. Second, the costs of human whole-genome sequencing have been drastically reduced to US$5000 and could be further reduced in the coming years.
Perspectives
Next-generation sequencing technology and emerging high-throughput genome-wide mapping techniques allow, for the first time, an in-depth understanding of life complexity and disease heterogeneity.
Dr Demosthenes E. Ziogas
Peripheral General Hospital of Ioannina - Xatzikosta
Read the Original
This page is a summary of: Genome diagnostics: next-generation sequencing, new genome-wide association studies and clinical challenges, Expert Review of Molecular Diagnostics, September 2011, Taylor & Francis,
DOI: 10.1586/erm.11.56.
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