Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Next generation sequence analysis for mitochondrial disorders | Research Next generation sequence analysis for mitochondrial disorders Valeria Vasta Sarah B Ng Emily H Turner Jay Shendure and Si Houn Hahn Addresses Seattle Children s Research Institute 1900 9th Ave Seattle WA 98101 USA. Department of Genome Sciences University of Washington 1705 NE Pacific St Seattle WA 98195 USA. Department of Pediatrics University of Washington 4800 Sand Point Way NE Seattle WA 98105 USA. Correspondence Jay Shendure. Email shendure@ Si Houn Hahn. Email sihahn@ Published 23 October 2009 Received 24 July 2009 Genome Medicine 2009 1 100 doi gm100 vie 4 v g 7 Accepted 23 October 2009 The electronic version of this article is the complete one and can be found online at http content 1 10 100 2009 Vasta et al. licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License http licenses by which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract Background Mitochondrial disorders can originate from mutations in one of many nuclear genes controlling the organelle function or in the mitochondrial genome mitochondrial DNA mtDNA . The large numbers of potential culprit genes together with the little guidance offered by most clinical phenotypes as to which gene may be causative are a great challenge for the molecular diagnosis of these disorders. Methods We developed a novel targeted resequencing assay for mitochondrial disorders relying on microarray-based hybrid capture coupled to next-generation sequencing. Specifically we subjected the entire mtDNA genome and the exons and intron-exon boundary regions of 362 known or candidate causative nuclear genes to targeted capture and resequencing. We here provide proof-of-concept data by testing one HapMap DNA sample and two positive control samples. Results Over 94 of the .
