Median network analysis of defectively sequenced entire mitochondrial genomes from early and contemporary disease studies
文献类型：期刊论文
| 作者 | Bandelt HJ[*]1; Yao YG2; Bravi CM3; Salas A4; Kivisild T5 |
| 刊名 | JOURNAL OF HUMAN GENETICS
 |
| 出版日期 | 2009 |
| 卷号 | 54期号:3页码:174-181 |
| 关键词 | database search haplogroup median network mtDNA sequencing error |
| ISSN号 | 1434-5161 |
| 通讯作者 | bandelt@math.unihamburg.de |
| 合作状况 | 其它 |
| 英文摘要 | Sequence analysis of the mitochondrial genome has become a routine method in the study of mitochondrial diseases. Quite often, the sequencing efforts in the search of pathogenic or disease-associated mutations are affected by technical and interpretive problems, caused by sample mix-up, contamination, biochemical problems, incomplete sequencing, misdocumentation and insufficient reference to previously published data. To assess data quality in case studies of mitochondrial diseases, it is recommended to compare any mtDNA sequence under consideration to their phylogenetically closest lineages available in the Web. The median network method has proven useful for visualizing potential problems with the data. We contrast some early reports of complete mtDNA sequences to more recent total mtDNA sequencing efforts in studies of various mitochondrial diseases. We conclude that the quality of complete mtDNA sequences generated in the medical field in the past few years is somewhat unsatisfactory and may even fall behind that of pioneer manual sequencing in the early nineties. Our study provides a paradigm for an a posteriori evaluation of sequence quality and for detection of potential problems with inferring a pathogenic status of a particular mutation. |
| 学科主题 | Genetics & Heredity |
| 收录类别 | SCI |
| 资助信息 | YGY was supported by the ‘Century Program’ (or Hundreds-Talent Program) of the Chinese Academy of Sciences. |
| 原文出处 | 2009543174.pdf |
| 语种 | 英语 |
| 公开日期 | 2010-08-24 |
| 源URL | [http://159.226.149.42:8088/handle/152453/6025]  |
| 专题 | 昆明动物研究所_重大疾病机理的遗传学 昆明动物研究所_动物模型与人类重大疾病机理重点实验室 |
| 作者单位 | 1.Department of Mathematics, University of Hamburg, Hamburg, Germany 2.Key Laboratory of Animal Models and Human Disease Mechanisms, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China 3.Laboratorio de Gene ´tica Molecular Poblacional, Instituto Multidisciplinario de Biologı ´a Celular (IMBICE), La Plata, Argentina 4.Unidade de Xene ´tica, Instituto de Medicina Legal and Departamento de Anatomia Patolo ´gica y Ciencias Forenses, Facultad de Medicina, Universidad de Santiago de Compostela, Santiago de Compostela, Galicia, Spain 5.Leverhulme Centre for Human Evolutionary Studies, University of Cambridge, Cambridge, UK |
| 推荐引用方式 GB/T 7714 | Bandelt HJ[*],Yao YG,Bravi CM,et al. Median network analysis of defectively sequenced entire mitochondrial genomes from early and contemporary disease studies[J]. JOURNAL OF HUMAN GENETICS,2009,54(3):174-181. |
| APA | Bandelt HJ[*],Yao YG,Bravi CM,Salas A,&Kivisild T.(2009).Median network analysis of defectively sequenced entire mitochondrial genomes from early and contemporary disease studies.JOURNAL OF HUMAN GENETICS,54(3),174-181. |
| MLA | Bandelt HJ[*],et al."Median network analysis of defectively sequenced entire mitochondrial genomes from early and contemporary disease studies".JOURNAL OF HUMAN GENETICS 54.3(2009):174-181. |
入库方式： OAI收割
来源：昆明动物研究所
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