Assays

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Learn more from our leadership team about the potential future for sequencing in the clinic. 


Assays

Sequencing assays are tests designed for use with various sequencing platforms. 

DNA or RNA is first extracted from tissues, blood, saliva and other biological samples. The extracted nucleic acids are now your template or base for the assay. A set of primers and probes are then used to target specific genomic regions of interest. The targeted regions are then amplified, prepared for sequencing and run on your sequencing instrument of choice. The information gathered from each sequencing run/test can in turn be used in a variety of research applications.


Projects

There are currently a variety of assay applications – both research and clinical – that have been in development worldwide for various sequencing platforms. Researchers have examined next-generation sequencing as a tool for applications in: transplant medicine, disease associations, drug resistance, patient selection, epidemiology and drug discovery among others and have determined that clinical sequencing is the preferred path forward.

We are investigating assays in use for routine biomarker detection in a variety of diseases to explore potential clinical applications in genetics, oncology and infectious diseases. Our research tools will build a foundation for a future of clinical care where sequencing assays are part of a comprehensive screening program for routine diagnosis. 

  1. Heidi L. Rehm. Disease-targeted sequencing: a cornerstone in the clinic. Nature Reviews Genetics April 2013 Volume 14 No 4 doi:10.1038/nrg3463
  2. Erlich H. HLA DNA typing: past, present, and future. Tissue Antigens. 2012 Jul;80(1):1-11. doi: 10.1111/j.1399-0039.2012.01881.x.
  3. C. Gabriel, D. Furst, I. Fae, S. Wenda, C. Zollikofer, J. Mytilineos & G. F. Fischer. 2014, HLA typing by next-generation sequencing – getting closer to reality. Tissue Antigens, 83, 65–75
  4. Alan D. Radford, David Chapman, Linda Dixon, Julian Chantrey, Alistair C. Darby, and Neil Hall. Application of next-generation sequencing technologies in virology J Gen Virol.2012 Sep;93(Pt 9):1853-68. doi: 10.1099/vir.0.043182-0. Epub 2012 May 30.
  5. Didelot X, Bowden R, Wilson DJ, Peto TE, Crook DW. Transforming clinical microbiology with bacterial genome sequencing. Nat Rev Genet. 2012 Sep;13(9):601-12. doi: 10.1038/nrg3226. Epub 2012 Aug 7.
  6. Bert Vogelstein, Nickolas Papadopoulos, Victor E. Velculescu, Shibin Zhou, Luis A. Diaz Jr., Kenneth W. Kinzler. Cancer Genome Landscapes Science. Mar 29, 2013; 339(6127): 1546–1558. doi: 10.1126/science.1235122
  7. Roychowdhury S, Iyer MK, Robinson DR, Lonigro RJ, Wu YM, Cao X, Kalyana-Sundaram S, Sam L, Balbin OA, Quist MJ, Barrette T, Everett J, Siddiqui J,Kunju LP, Navone N, Araujo JC, Troncoso P, Logothetis CJ, Innis JW, Smith DC, Lao CD, Kim SY, Roberts JS, Gruber SB, Pienta KJ, Talpaz M, Chinnaiyan AM. Personalized oncology through integrative high-throughput sequencing: a pilot study Sci Transl Med. 2011 Nov 30;3(111):111ra121. doi: 10.1126

The assay applications described in the reviews above focus on the areas of human genetics, oncology and virology and require the use of specifically designed primers and probes to target the genomic regions of interest for sequencing. Our team is dedicated to developing assays that not only build on our pioneering work at Roche Sequencing but delve into new research areas. Many of the applications discussed in these reviews are important in the area of human health and disease, demonstrating the impact that sequencing has and will continue to have in basic research and translational medicine.