25th Medical Genetics: Genome sequencing

Author: J. A. Veltman
Submitted: Friday 6th of July 2012 08:53:00 AM
Submitted by: egf
Language: English
Content type: Learning resource
Educational levels: expert, qc1, qc2, qc3


There is considerable variation between the genetic code of two individuals, both at the single nucleotide and at the structural level. Identifying and studying the consequences of these variations, a core activity in human genetics research, is driven by technological innovations. Currently we are in the midst of one of the greatest technological revolutions in genomics. Novel DNA sequencing methods are dramatically increasing sequencing throughput to a level where it is soon possible to rapidly sequence an individual genome for an affordable price. If properly established, whole genome sequencing will have a major impact on the entire field of medicine; All genomic variation that can be linked to disease is detectable in a single experiment! In this presentation I will introduce next generation sequencing technology, discuss its development and advantages over traditional sequencing technologies, illustrate the use of this technology for rapid identification of disease causing genes in rare and common disease and discuss briefly its potential for implementation in the clinic. Recommended reading: 1. Shendure J, Ji H. Next-generation DNA sequencing. Nat Biotechnol 26: 1135-45 (2008). 2. Tucker T, Marra M, Friedman JM. Massively parallel sequencing: the next big thing in genetic medicine. Am J Hum Genet 85:142-54 (2009). Review. 3. Ashley EA, Butte AJ, Wheeler MT, Chen R, Klein TE, Dewey FE, Dudley JT, Ormond KE, Pavlovic A, Morgan AA, Pushkarev D, Neff NF, Hudgins L, Gong L, Hodges LM, Berlin DS, Thorn CF, Sangkuhl K, Hebert JM, Woon M, Sagreiya H, Whaley R, Knowles JW, Chou MF, Thakuria JV, Rosenbaum AM, Zaranek AW, Church GM, Greely HT, Quake SR, Altman RB. Clinical assessment incorporating a personal genome. Lancet 375: 1525- 35 (2010). 4. Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL, Zhang F, Stankiewicz P, Halperin JJ, Yang C, Gehman C, Guo D, Irikat RK, Tom W, Fantin NJ, Muzny DM, Gibbs RA. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med 362:1181-91 (2010).


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Original version - English

abstract Veltman_Genome_sequencing_5209.pdf

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J. A. Veltman. 25th Medical Genetics: Genome sequencing. EUROGENE portal. July 2012. online: http://eurogene.open.ac.uk/content/25th-medical-genetics-genome-sequencing



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