• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

DNA sequencing: clinical applications of new DNA sequencing technologies.

作者信息

Dewey Frederick E, Pan Stephen, Wheeler Matthew T, Quake Stephen R, Ashley Euan A

机构信息

Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Stanford University School of Medicine, Falk CVRB, 300 Pasteur Dr, Stanford, CA 94305, USA.

出版信息

Circulation. 2012 Feb 21;125(7):931-44. doi: 10.1161/CIRCULATIONAHA.110.972828.

DOI:10.1161/CIRCULATIONAHA.110.972828
PMID:22354974
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3364518/
Abstract
摘要

相似文献

1
DNA sequencing: clinical applications of new DNA sequencing technologies.DNA测序:新型DNA测序技术的临床应用
Circulation. 2012 Feb 21;125(7):931-44. doi: 10.1161/CIRCULATIONAHA.110.972828.
2
Genome structural variation discovery and genotyping.基因组结构变异发现与基因分型。
Nat Rev Genet. 2011 May;12(5):363-76. doi: 10.1038/nrg2958. Epub 2011 Mar 1.
3
Massively parallel sequencing: the new frontier of hematologic genomics.大规模平行测序:血液基因组学的新前沿。
Blood. 2013 Nov 7;122(19):3268-75. doi: 10.1182/blood-2013-07-460287. Epub 2013 Sep 10.
4
Understanding human genetic variation in the era of high-throughput sequencing.理解高通量测序时代的人类遗传变异。
EMBO Rep. 2010 Sep;11(9):650-2. doi: 10.1038/embor.2010.126. Epub 2010 Aug 20.
5
A sample selection strategy for next-generation sequencing.下一代测序的样本选择策略。
Genet Epidemiol. 2012 Nov;36(7):696-709. doi: 10.1002/gepi.21664. Epub 2012 Aug 3.
6
Genomic Analysis in the Age of Human Genome Sequencing.人类基因组测序时代的基因组分析。
Cell. 2019 Mar 21;177(1):70-84. doi: 10.1016/j.cell.2019.02.032.
7
The complete genome of an individual by massively parallel DNA sequencing.通过大规模平行DNA测序获得个体的完整基因组。
Nature. 2008 Apr 17;452(7189):872-6. doi: 10.1038/nature06884.
8
Newest Methods for Detecting Structural Variations.最新的结构变异检测方法。
Trends Biotechnol. 2019 Sep;37(9):973-982. doi: 10.1016/j.tibtech.2019.02.003. Epub 2019 Mar 19.
9
epiGBS: reference-free reduced representation bisulfite sequencing.epiGBS:无参考的简化重亚硫酸盐测序。
Nat Methods. 2016 Apr;13(4):322-4. doi: 10.1038/nmeth.3763. Epub 2016 Feb 8.
10
Comparison of sequencing platforms for single nucleotide variant calls in a human sample.比较人类样本中单核苷酸变异调用的测序平台。
PLoS One. 2013;8(2):e55089. doi: 10.1371/journal.pone.0055089. Epub 2013 Feb 6.

引用本文的文献

1
Addressing data management and analysis challenges in viral genomics: The Swiss HIV cohort study viral next generation sequencing database.应对病毒基因组学中的数据管理与分析挑战:瑞士HIV队列研究病毒下一代测序数据库
PLOS Digit Health. 2025 Apr 21;4(4):e0000825. doi: 10.1371/journal.pdig.0000825. eCollection 2025 Apr.
2
Solid-State Nanopore Sizing for cfDNA Sample Quality Control in Point-of-Need Sequencing.用于即时测序中cfDNA样本质量控制的固态纳米孔大小测定
bioRxiv. 2025 Mar 18:2025.03.17.643726. doi: 10.1101/2025.03.17.643726.
3
Introduction to Special Issue: Genomic Analysis of Common Disease.

本文引用的文献

1
Phased whole-genome genetic risk in a family quartet using a major allele reference sequence.采用主要等位基因参考序列对一个家系四重奏进行分阶段全基因组遗传风险评估。
PLoS Genet. 2011 Sep;7(9):e1002280. doi: 10.1371/journal.pgen.1002280. Epub 2011 Sep 15.
2
Haplotype phasing: existing methods and new developments.单体型相位确定:现有方法和新进展。
Nat Rev Genet. 2011 Sep 16;12(10):703-14. doi: 10.1038/nrg3054.
3
Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development.鉴定 RNF213 为 moyamoya 病的易感基因及其在血管发育中的可能作用。
特刊介绍:常见疾病的基因组分析
Curr Issues Mol Biol. 2025 Feb 10;47(2):112. doi: 10.3390/cimb47020112.
4
Genetics of hypertrophic cardiomyopathy: established and emerging implications for clinical practice.肥厚型心肌病的遗传学:对临床实践的既定和新出现的影响。
Eur Heart J. 2024 Aug 9;45(30):2727-2734. doi: 10.1093/eurheartj/ehae421.
5
Structural bioinformatics studies of glutamate transporters and their AlphaFold2 predicted water-soluble QTY variants and uncovering the natural mutations of L->Q, I->T, F->Y and Q->L, T->I and Y->F.谷氨酸转运体的结构生物信息学研究及其 AlphaFold2 预测的水溶性 QTY 变体,并揭示 L->Q、I->T、F->Y 和 Q->L、T->I 和 Y->F 的自然突变。
PLoS One. 2024 Apr 10;19(4):e0289644. doi: 10.1371/journal.pone.0289644. eCollection 2024.
6
Structural bioinformatics studies of serotonin, dopamine and norepinephrine transporters and their AlphaFold2 predicted water-soluble QTY variants and uncovering the natural mutations of L->Q, I->T, F->Y and Q->L, T->I and Y->F.对血清素、多巴胺和去甲肾上腺素转运体的结构生物信息学研究及其 AlphaFold2 预测的水溶性 QTY 变体,并揭示 L->Q、I->T、F->Y 和 Q->L、T->I 和 Y->F 的自然突变。
PLoS One. 2024 Mar 22;19(3):e0300340. doi: 10.1371/journal.pone.0300340. eCollection 2024.
7
The fluorescence amplification strategy based on 3D DNA walker and CRISPR/Cas12a for the rapid detection of BRAF V600E.基于 3D DNA walker 和 CRISPR/Cas12a 的荧光扩增策略用于快速检测 BRAF V600E。
Anal Sci. 2022 Aug;38(8):1057-1066. doi: 10.1007/s44211-022-00131-5. Epub 2022 Jun 3.
8
Oral microbiome research - A Beginner's glossary.口腔微生物组研究——初学者词汇表。
J Oral Maxillofac Pathol. 2022 Jan-Mar;26(1):87-92. doi: 10.4103/jomfp.jomfp_455_21. Epub 2022 Mar 31.
9
A machine learning approach for accurate and real-time DNA sequence identification.一种用于准确和实时 DNA 序列识别的机器学习方法。
BMC Genomics. 2021 Jul 9;22(1):525. doi: 10.1186/s12864-021-07841-6.
10
A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes.利用甲基化敏感高分辨率熔解曲线分析干血斑对普拉德-威利和安格曼综合征进行新生儿筛查的初步研究。
Sci Rep. 2020 Aug 3;10(1):13026. doi: 10.1038/s41598-020-69750-0.
PLoS One. 2011;6(7):e22542. doi: 10.1371/journal.pone.0022542. Epub 2011 Jul 20.
4
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms.外显子组测序鉴定出 SMAD3 突变是家族性胸主动脉瘤和夹层伴颅内及其他动脉动脉瘤的病因。
Circ Res. 2011 Sep 2;109(6):680-6. doi: 10.1161/CIRCRESAHA.111.248161. Epub 2011 Jul 21.
5
An integrated semiconductor device enabling non-optical genome sequencing.一种用于非光学基因组测序的集成半导体设备。
Nature. 2011 Jul 20;475(7356):348-52. doi: 10.1038/nature10242.
6
Genotype and SNP calling from next-generation sequencing data.从下一代测序数据中进行基因型和单核苷酸多态性(SNP)的调用。
Nat Rev Genet. 2011 Jun;12(6):443-51. doi: 10.1038/nrg2986.
7
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.外显子组测序鉴定婴儿期线粒体心肌病中线粒体丙氨酰-tRNA 合成酶突变。
Am J Hum Genet. 2011 May 13;88(5):635-42. doi: 10.1016/j.ajhg.2011.04.006. Epub 2011 May 5.
8
A genome-wide comparison of the functional properties of rare and common genetic variants in humans.人类罕见和常见遗传变异功能特性的全基因组比较。
Am J Hum Genet. 2011 Apr 8;88(4):458-68. doi: 10.1016/j.ajhg.2011.03.008. Epub 2011 Mar 31.
9
A genome-wide study of DNA methylation patterns and gene expression levels in multiple human and chimpanzee tissues.在多个人类和黑猩猩组织中进行的全基因组 DNA 甲基化模式和基因表达水平的研究。
PLoS Genet. 2011 Feb;7(2):e1001316. doi: 10.1371/journal.pgen.1001316. Epub 2011 Feb 24.
10
A rare variant in MYH6 is associated with high risk of sick sinus syndrome.一种罕见的 MYH6 变异与病态窦房结综合征的高风险相关。
Nat Genet. 2011 Mar 6;43(4):316-20. doi: 10.1038/ng.781.