DNA sequencing; next-generation sequencing

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[1][2][3][4][5][6][7]

Indications

  • diagnoses of undiagnosed diseases*

* genome sequencing lead to diagnosis in 35% of undiagnosed patients[6]

Clinical significance

Procedure

  • a novel method for DNA sequencing employing simultaneous sequencing of different parts of a genome in tiny wells on a silicon chip is described.[1]
  • the sequencing can be performed by a single technician with a small instrument.

More general terms

More specific terms

Additional terms

References

  1. ↑ 1.0 1.1 1.2 Margulies M, Egholm M, Altman WE, Attiya S, Bader JS, Bemben LA, Berka J, Braverman MS, Chen YJ, Chen Z, Dewell SB, Du L, Fierro JM, Gomes XV, Godwin BC, He W, Helgesen S, Ho CH, Irzyk GP, Jando SC, Alenquer ML, Jarvie TP, Jirage KB, Kim JB, Knight JR, Lanza JR, Leamon JH, Lefkowitz SM, Lei M, Li J, Lohman KL, Lu H, Makhijani VB, McDade KE, McKenna MP, Myers EW, Nickerson E, Nobile JR, Plant R, Puc BP, Ronan MT, Roth GT, Sarkis GJ, Simons JF, Simpson JW, Srinivasan M, Tartaro KR, Tomasz A, Vogt KA, Volkmer GA, Wang SH, Wang Y, Weiner MP, Yu P, Begley RF, Rothberg JM. Genome sequencing in microfabricated high-density picolitre reactors. Nature. 2005 Sep 15;437(7057):376-80. Epub 2005 Jul 31. PMID: https://www.ncbi.nlm.nih.gov/pubmed/16056220
  2. ↑ FDA News Release: Nov. 19, 2013 FDA allows marketing of four "Next Generation" gene sequencing devices. http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm375742.htm
  3. ↑ Phillips KA Evolving Payer Coverage Policies on Genomic Sequencing Tests. Beginning of the End or End of the Beginning? JAMA. Published online April 16, 2018. PMID: https://www.ncbi.nlm.nih.gov/pubmed/29710095 https://jamanetwork.com/journals/jama/fullarticle/2678995
  4. ↑ Hildreth C. Next-Gen Sequencing: The Clinical Conundrum Future appears bright, but drawbacks can range from annoying to disheartening. MedPage Today. May 6, 2018 https://www.medpagetoday.com/genetics/genetictesting/72706
  5. ↑ Adams DR, Eng CM Next-Generation Sequencing to Diagnose Suspected Genetic Disorders. N Engl J Med 2018; 379:1353-1362. Oct 4, 2018 PMID: https://www.ncbi.nlm.nih.gov/pubmed/30281996 https://www.nejm.org/doi/full/10.1056/NEJMra1711801
  6. ↑ 6.0 6.1 Splinter K, Adams DR, Bacino CA et al. Effect of genetic diagnosis on patients with previously undiagnosed disease. N Engl J Med 2018 Oct 10 PMID: https://www.ncbi.nlm.nih.gov/pubmed/30304647 Free Article https://www.nejm.org/doi/10.1056/NEJMoa1714458
  7. ↑ ARUP Consult: Rapid Mendelian Genes Sequencing Panel, Trio https://arupconsult.com/ati/rapid-mendelian-genes-sequencing-panel
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