AUG 21, 2013 06:00 AM PDT

What to use for targeted re-sequencing - microarrays or NGS?

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  • Laboratory Director, TessArae, LLC
      She obtained her PhD at the University of Queensland in Australia in a field of biochemistry, and subsequently worked as a post-doctoral fellow at Queen's University of Belfast, University of Queensland and Institute for Molecular Biosciences. Since 2005 until 2008 she held a continuing appointment as a lecturer in a School of Dentistry at the University of Queensland and established her own laboratory in area of functional genomics and metabonomics. She has over 10 years of experience in molecular biology, genetics, genomics, biochemistry, microbiology and metabonomics. In addition she has experience as a science writer. Recently Agnieszka served on the Council of the Australian Society for Biochemistry and Molecular Biology and is still active in the society. Currently she is working on novel diagnostic assays for infectious diseases using microarray re-sequencing technology.


    Genetic testing is becoming a widespread practice and with human genome fully sequenced we want to develop best methods to do it. Single gene or single mutation screening is pretty much becoming a thing of the past. Similarly using just single PCR for identifying mutations, while cheap and quick, is being slowly replaced by highly multiplex tests.Targeted re-sequencing applications analyze a subset of human genes and/or mutations and report back the sequence of fragments tested. Currently there are two technologies for doing that: sequencing by hybridization or Next Generation Sequencing. I will discuss the technical aspects, sample and analysis workflows, and validation protocols for re-sequencing assays. I will also briefly review some of the currently available assays for targeted re-sequencing highlighting their advantages, disadvantages and clinical use.

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