Assessing the potential of next-generation sequencing

SINCE being introduced just seven years ago in 2005, next generation sequencing (NGS) has attracted much interest for providing a faster and more comprehensive method of genomic analysis.

Now the full potential of the technology is discussed in a new report from the Whole Genome Analysis (WGA) working group of the Association for Molecular Pathology (AMP) clinical practice committee. It says this provides a detailed and compelling overview of the landscape of NGS technology and its clinical relevance and impact on improving patient care.

Published in the November 2012 issue of The Journal of Molecular Diagnostics (JMD), the committee’s report describes how NGS and related technologies have significantly reduced the resources required to conduct complex genomic analysis.

It also highlights issues which it says need to be addressed in greater depth in the period ahead. “The next phase will include detailed studies of the validation, interpretation, and bioinformatics elements of NGS. We are excited to collaborate with other organisations to develop guidelines for application and quality assessment,” said Jane Gibson, WGA working group chair. “While this report is comprehensive, there is much yet to be done.”

The report can be read in PDF here:

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