人类孟德尔遗传性疾病基因组序列变异解析与临床规范
随着二代基因测序（NGS）技术的不断完善,其在临床应用和研究逐渐普及,越来越多的科研或医疗机构开始应用该项技术[主要包括全基因组测序（WGS）、全外显子测序（WES）、目标区域捕获测序]进行人类孟德尔遗传性疾病的分子诊断和遗传学研究。临床实践中,基因组检测流程需规范化、基因组序列变异判断需标准化、测序技术需严格质控、具体测序技术需合理选择。...
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| Published in | 中国现代神经疾病杂志 Vol. 17; no. 7; pp. 471 - 476 |
|---|---|
| Main Author | |
| Format | Journal Article |
| Language | Chinese |
| Published |
410008长沙,中南大学医学遗传学国家重点实验室 国家老年疾病临床医学研究中心%中南大学湘雅医院神经内科,长沙,410008
2017
410008长沙,中南大学湘雅医院神经内科 |
| Subjects | |
| Online Access | Get full text |
| ISSN | 1672-6731 |
| DOI | 10.3969/j.issn.1672-6731.2017.07.001 |
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| Abstract | 随着二代基因测序（NGS）技术的不断完善,其在临床应用和研究逐渐普及,越来越多的科研或医疗机构开始应用该项技术[主要包括全基因组测序（WGS）、全外显子测序（WES）、目标区域捕获测序]进行人类孟德尔遗传性疾病的分子诊断和遗传学研究。临床实践中,基因组检测流程需规范化、基因组序列变异判断需标准化、测序技术需严格质控、具体测序技术需合理选择。 |
|---|---|
| AbstractList | @@ 随着二代基因测序（NGS）技术的不断完善,其在临床应用和研究逐渐普及,越来越多的科研或医疗机构开始应用该项技术[主要包括全基因组测序（WGS）、全外显子测序（WES）、目标区域捕获测序]进行人类孟德尔遗传性疾病的分子诊断和遗传学研究。临床实践中,基因组检测流程需规范化、基因组序列变异判断需标准化、测序技术需严格质控、具体测序技术需合理选择。 |
| Author | 唐北沙 曾胜 李凯 |
| AuthorAffiliation | 中南大学湘雅医院神经内科,长沙410008 医学遗传学国家重点实验室国家老年疾病临床医学研究中心 |
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| Author_FL | TANG Bei-sha LI Kai ZENG Sheng |
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| Author_xml | – sequence: 1 fullname: 唐北沙 曾胜 李凯 |
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| DocumentTitleAlternate | Clinical standards and interpretation of gene sequence variants in human Mendelian disorders |
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| EndPage | 476 |
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| Keywords | 遗传性疾病,先天性 Genes 突变 Genetic diseases,inborn 综述 Mutation Review 基因 |
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| Notes | TANG Bei-sha1,2 , ZENG Sheng1, LI Kai1（1Department of Neurology, Xiangya Hospital, 2State Key Laboratory of Medical Genetics, National Clinical Research Center for Geriatric Diseases, Central South University, Changsha 410008, Hu＇nan, China） Genetic diseases, inborn; Genes; Mutation; Review 12-1363/R |
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| PublicationTitle | 中国现代神经疾病杂志 |
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| PublicationYear | 2017 |
| Publisher | 410008长沙,中南大学医学遗传学国家重点实验室 国家老年疾病临床医学研究中心%中南大学湘雅医院神经内科,长沙,410008 410008长沙,中南大学湘雅医院神经内科 |
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| Snippet | 随着二代基因测序（NGS）技术的不断完善,其在临床应用和研究逐渐普及,越来越多的科研或医疗机构开始应用该项技术[主要包括全基因组测序（WGS）、全外显子测序（WES）、目标... @@ |
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| SubjectTerms | 基因 突变 综述 遗传性疾病,先天性 |
| Title | 人类孟德尔遗传性疾病基因组序列变异解析与临床规范 |
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