• 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

Challenges in the clinical application of whole-genome sequencing.

作者信息

Ormond Kelly E, Wheeler Matthew T, Hudgins Louanne, Klein Teri E, Butte Atul J, Altman Russ B, Ashley Euan A, Greely Henry T

机构信息

Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.

出版信息

Lancet. 2010 May 15;375(9727):1749-51. doi: 10.1016/S0140-6736(10)60599-5. Epub 2010 Apr 29.

DOI:10.1016/S0140-6736(10)60599-5
PMID:20434765
Abstract
摘要

相似文献

1
Challenges in the clinical application of whole-genome sequencing.全基因组测序临床应用中的挑战。
Lancet. 2010 May 15;375(9727):1749-51. doi: 10.1016/S0140-6736(10)60599-5. Epub 2010 Apr 29.
2
Accurate whole genome sequencing as the ultimate genetic test.精确的全基因组测序作为终极基因检测手段。
Clin Chem. 2015 Jan;61(1):305-6. doi: 10.1373/clinchem.2014.224907. Epub 2014 Dec 5.
3
Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders.用于产前检测胎儿单基因疾病的全基因组测序
Cold Spring Harb Perspect Med. 2015 Aug 7;5(10):a023077. doi: 10.1101/cshperspect.a023077.
4
Whole genome sequencing as a diagnostic test: challenges and opportunities.全基因组测序作为一种诊断测试：挑战与机遇。
Clin Chem. 2014 May;60(5):724-33. doi: 10.1373/clinchem.2013.209213. Epub 2013 Nov 13.
5
Controversy and debate on clinical genomics sequencing-paper 2: clinical genome-wide sequencing: don't throw out the baby with the bathwater!临床基因组测序的争议与辩论——论文2：临床全基因组测序：勿因噎废食！
J Clin Epidemiol. 2017 Dec;92:7-10. doi: 10.1016/j.jclinepi.2017.08.020. Epub 2017 Sep 12.
6
Getting personal.涉及个人隐私。
Nature. 2008 Oct 23;455(7216):1007. doi: 10.1038/4551007a.
7
Genetic counseling in oncology.肿瘤学中的遗传咨询
JAMA. 2011 Oct 5;306(13):1442; author reply 1442-3. doi: 10.1001/jama.2011.1402.
8
Medicine. Whole-genome sequencing: the new standard of care?医学。全基因组测序：新的治疗标准？
Science. 2012 Jun 1;336(6085):1112-3. doi: 10.1126/science.1220967.
9
Genetic counselors save costs across the genetic testing spectrum.遗传咨询师在整个基因检测范围内节省成本。
Am J Manag Care. 2017 Aug;23(10 Spec No.):SP428-SP430.
10
Whole-genome and whole-exome sequencing in hereditary cancer: impact on genetic testing and counseling.全基因组和全外显子组测序在遗传性癌症中的应用：对遗传检测和咨询的影响。
Cancer J. 2012 Jul-Aug;18(4):287-92. doi: 10.1097/PPO.0b013e318262467e.

引用本文的文献

1
Artificial intelligence and database for NGS-based diagnosis in rare disease.基于二代测序的罕见病诊断人工智能与数据库
Front Genet. 2024 Jan 25;14:1258083. doi: 10.3389/fgene.2023.1258083. eCollection 2023.
2
Identification of pathogenic variants in patients with common type 2 diabetes can lead to discontinuation of pharmacological treatment.在常见2型糖尿病患者中鉴定出致病变异可能会导致停止药物治疗。
Mol Genet Metab Rep. 2023 Mar 29;35:100972. doi: 10.1016/j.ymgmr.2023.100972. eCollection 2023 Jun.
3
Attitudes and beliefs regarding race-targeted genetic testing of Black people: A systematic review.
关于针对黑人的种族靶向基因检测的态度和信念：系统评价。
J Genet Couns. 2023 Apr;32(2):435-461. doi: 10.1002/jgc4.1653. Epub 2023 Jan 16.
4
Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy.短读全基因组测序在 13 号染色体上发现的 SGCG 基因纯合倒位导致的肢带型肌肉营养不良症患者。
Genes (Basel). 2022 Sep 28;13(10):1752. doi: 10.3390/genes13101752.
5
Data Integration Challenges for Machine Learning in Precision Medicine.精准医学中机器学习的数据整合挑战
Front Med (Lausanne). 2022 Jan 25;8:784455. doi: 10.3389/fmed.2021.784455. eCollection 2021.
6
LYRUS: a machine learning model for predicting the pathogenicity of missense variants.LYRUS：一种用于预测错义变异致病性的机器学习模型。
Bioinform Adv. 2021 Dec 25;2(1):vbab045. doi: 10.1093/bioadv/vbab045. eCollection 2022.
7
Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.实施先天性免疫缺陷的新一代测序：荷兰基因组诊断中心前瞻性观察队列研究的诊断收益和临床意义。
Front Immunol. 2021 Dec 21;12:780134. doi: 10.3389/fimmu.2021.780134. eCollection 2021.
8
Controlling my genome with my smartphone: first clinical experiences of the PROMISE system.用智能手机控制我的基因组：PROMISE 系统的首次临床经验。
Clin Res Cardiol. 2022 Jun;111(6):638-650. doi: 10.1007/s00392-021-01942-8. Epub 2021 Oct 25.
9
Targeted next-generation sequencing of deaf patients from Southwestern China.中国西南地区聋病患者的靶向二代测序。
Mol Genet Genomic Med. 2021 Apr;9(4):e1660. doi: 10.1002/mgg3.1660. Epub 2021 Mar 16.
10
Implementing Expanded Prenatal Genetic Testing: Should Parents Have Access to Any and All Fetal Genetic Information?实施扩展型产前基因检测：父母是否应该获取所有胎儿基因信息？
Am J Bioeth. 2022 Feb;22(2):4-22. doi: 10.1080/15265161.2020.1867933. Epub 2021 Jan 18.