Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics.
作者信息
van El Carla G, Cornel Martina C, Borry Pascal, Hastings Ros J, Fellmann Florence, Hodgson Shirley V, Howard Heidi C, Cambon-Thomsen Anne, Knoppers Bartha M, Meijers-Heijboer Hanne, Scheffer Hans, Tranebjaerg Lisbeth, Dondorp Wybo, de Wert Guido M W R
机构信息
Section Community Genetics, Department of Clinical Genetics and EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.
出版信息
Eur J Hum Genet. 2013 Jun;21 Suppl 1(Suppl 1):S1-5.
Abstract
摘要
相似文献
1
Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics.医疗保健中的全基因组测序。欧洲人类遗传学学会的建议。
Eur J Hum Genet. 2013 Jun;21 Suppl 1(Suppl 1):S1-5.
2
Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy.欧洲医学辅助生殖与遗传学的当前问题：研究、临床实践、伦理、法律问题及政策
Hum Reprod. 2014 Aug;29(8):1603-9. doi: 10.1093/humrep/deu130. Epub 2014 Jul 8.
3
Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics.医疗保健中的全基因组测序：欧洲人类遗传学学会的建议
Eur J Hum Genet. 2013 Jun;21(6):580-4. doi: 10.1038/ejhg.2013.46.
4
Ethical issues in consumer genome sequencing: Use of consumers' samples and data.消费者基因组测序中的伦理问题：消费者样本和数据的使用。
Appl Transl Genom. 2016 Feb 1;8:23-30. doi: 10.1016/j.atg.2016.01.005. eCollection 2016 Mar.
5
Massive parallel sequencing of human whole mitochondrial genomes with Ion Torrent technology: an optimized workflow for Anthropological and Population Genetics studies.使用Ion Torrent技术对人类全线粒体基因组进行大规模平行测序：人类学和群体遗传学研究的优化流程
Mitochondrial DNA A DNA Mapp Seq Anal. 2017 Nov;28(6):843-850. doi: 10.1080/24701394.2016.1197218. Epub 2016 Nov 8.
6
Reporting results from whole-genome and whole-exome sequencing in clinical practice: a proposal for Canada?在临床实践中报告全基因组和全外显子组测序结果：加拿大的一项提议？
J Med Genet. 2014 Jan;51(1):68-70. doi: 10.1136/jmedgenet-2013-101934. Epub 2013 Sep 27.
7
The promise and challenges of next-generation genome sequencing for clinical care.下一代基因组测序在临床护理中的前景与挑战。
JAMA Intern Med. 2014 Feb 1;174(2):275-80. doi: 10.1001/jamainternmed.2013.12048.
8
The current role of next-generation DNA sequencing in routine care of patients with hereditary cardiovascular conditions: a viewpoint paper of the European Society of Cardiology working group on myocardial and pericardial diseases and members of the European Society of Human Genetics.下一代DNA测序在遗传性心血管疾病患者常规护理中的当前作用：欧洲心脏病学会心肌和心包疾病工作组及欧洲人类遗传学学会成员的观点文件
Eur Heart J. 2015 Jun 7;36(22):1367-70. doi: 10.1093/eurheartj/ehv122. Epub 2015 Apr 5.
9
Whole-exome/genome sequencing and genomics.全外显子组/基因组测序和基因组学。
Pediatrics. 2013 Dec;132(Suppl 3):S211-5. doi: 10.1542/peds.2013-1032E.
10
Understanding access to genomics in an ethnically diverse south Florida population: A comparison of demographics in odyssey and rapid whole genome sequencing programs.了解佛罗里达州南部一个种族多样化人群中的基因组学获取情况：奥德赛和快速全基因组测序计划中的人口统计学比较。
J Genet Couns. 2020 Aug;29(4):553-561. doi: 10.1002/jgc4.1281. Epub 2020 Apr 11.
引用本文的文献
1
Rapid Whole-Genome Sequencing in Critically Ill Infants and Children with Suspected, Undiagnosed Genetic Diseases: Evolution to a First-Tier Clinical Laboratory Test in the Era of Precision Medicine.对疑似患有未确诊遗传病的危重症婴幼儿进行快速全基因组测序：在精准医学时代向一线临床实验室检测的演变。
Children (Basel). 2025 Mar 28;12(4):429. doi: 10.3390/children12040429.
2
Detection of Genetic Variants in Thai Population by Trio-Based Whole-Genome Sequencing Study.基于三联体全基因组测序研究检测泰国人群中的基因变异
Biology (Basel). 2025 Mar 17;14(3):301. doi: 10.3390/biology14030301.
3
"I'm quite proud of how we've handled it": health professionals' experiences of returning additional findings from the 100,000 genomes project.“我对我们处理此事的方式深感自豪”：医疗专业人员关于返还来自“十万基因组计划”额外研究结果的经历
Eur J Hum Genet. 2024 Nov 5. doi: 10.1038/s41431-024-01716-6.
4
An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.一项针对伴有孟德尔疾病的家族中的二级发现的西班牙研究：选择、患病率和家族史。
Eur J Hum Genet. 2023 Feb;31(2):223-230. doi: 10.1038/s41431-022-01240-5. Epub 2022 Nov 29.
5
Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.向儿科患者报告非 ACMG 推荐的偶然遗传发现：基因组测序经验的考虑和机会。
Genome Med. 2022 Nov 21;14(1):131. doi: 10.1186/s13073-022-01139-2.
6
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.一种基于全基因组测序的综合流程，用于鉴定遗传性视网膜营养不良中的新候选基因。
NPJ Genom Med. 2022 Mar 4;7(1):17. doi: 10.1038/s41525-022-00286-0.
7
Simulating the Genetics Clinic of the Future - whether undergoing whole-genome sequencing shapes professional attitudes.模拟未来的遗传学诊所——接受全基因组测序是否会塑造专业态度。
J Community Genet. 2022 Apr;13(2):247-256. doi: 10.1007/s12687-021-00561-0. Epub 2022 Jan 27.
8
Public interest in unexpected genomic findings: a survey study identifying aspects of sequencing attitudes that influence preferences.公众对意外基因组发现的兴趣：一项确定影响偏好的测序态度方面的调查研究。
J Community Genet. 2022 Apr;13(2):235-245. doi: 10.1007/s12687-022-00577-0. Epub 2022 Jan 21.
9
Return of research results (RoRR) to the healthy CHRIS cohort: designing a policy with the participants.向健康的CHRIS队列返回研究结果（RoRR）：与参与者共同制定一项政策。
J Community Genet. 2021 Oct;12(4):577-592. doi: 10.1007/s12687-021-00536-1. Epub 2021 Jul 9.
10
Whether, when, how, and how much? General public's and cancer patients' views about the disclosure of genomic secondary findings.是否、何时、如何以及多少？一般公众和癌症患者对基因组二级发现披露的看法。
BMC Med Genomics. 2021 Jun 26;14(1):167. doi: 10.1186/s12920-021-01016-8.
本文引用的文献
1
Between hype and hope: whole-genome sequencing in clinical medicine.在炒作与希望之间：临床医学中的全基因组测序
Per Med. 2012 May;9(3):243-246. doi: 10.2217/pme.11.76.
2
Diagnostic interpretation of array data using public databases and internet sources.使用公共数据库和互联网资源对阵列数据进行诊断解读。
Hum Mutat. 2012 Jun;33(6):930-40. doi: 10.1002/humu.22049.
3
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.新生儿重症监护病房中用于遗传疾病诊断的快速全基因组测序。
Sci Transl Med. 2012 Oct 3;4(154):154ra135. doi: 10.1126/scitranslmed.3004041.
4
De novo mutations in human genetic disease.人类遗传疾病中的新生突变。
Nat Rev Genet. 2012 Jul 18;13(8):565-75. doi: 10.1038/nrg3241.
5
Developing a policy for paediatric biobanks: principles for good practice.制定儿科生物库政策：良好实践原则。
Eur J Hum Genet. 2013 Jan;21(1):2-7. doi: 10.1038/ejhg.2012.99. Epub 2012 Jun 20.
6
Noninvasive whole-genome sequencing of a human fetus.对人类胎儿进行无创全基因组测序。
Sci Transl Med. 2012 Jun 6;4(137):137ra76. doi: 10.1126/scitranslmed.3004323.
7
Incidental medical information in whole-exome sequencing.全外显子测序中的偶然医疗信息。
Pediatrics. 2012 Jun;129(6):e1605-11. doi: 10.1542/peds.2011-0080. Epub 2012 May 14.
8
The use of arrays to detect copy-number variations in clinical practice.
Hum Mutat. 2012 Jun;33(6):905. doi: 10.1002/humu.22084.
9
The predictive capacity of personal genome sequencing.个人基因组测序的预测能力。
Sci Transl Med. 2012 May 9;4(133):133ra58. doi: 10.1126/scitranslmed.3003380. Epub 2012 Apr 2.
10
The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe.遗传检测的变化格局及其对欧洲临床和实验室服务与研究的影响。
Eur J Hum Genet. 2012 Sep;20(9):911-6. doi: 10.1038/ejhg.2012.56. Epub 2012 Mar 28.
Zotero 插件