Unlocking the potential of the UK 100,000 Genomes Project-lessons learned from analysis of the "Congenital Malformations caused by Ciliopathies" cohort.
作者信息
Best Sunayna, Inglehearn Chris F, Watson Christopher M, Toomes Carmel, Wheway Gabrielle, Johnson Colin A
机构信息
Division of Molecular Medicine, Leeds Institute of Medical Research at St. James's, University of Leeds, St. James's University Hospital, Leeds, UK.
Yorkshire Regional Genetics Service, Leeds, UK.
出版信息
Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):5-8. doi: 10.1002/ajmg.c.31965. Epub 2022 Mar 15.
Abstract
摘要
相似文献
1
Unlocking the potential of the UK 100,000 Genomes Project-lessons learned from analysis of the "Congenital Malformations caused by Ciliopathies" cohort.挖掘英国“10万基因组计划”的潜力——从“纤毛病导致的先天性畸形”队列分析中获得的经验教训
Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):5-8. doi: 10.1002/ajmg.c.31965. Epub 2022 Mar 15.
2
Re: Best et al., 'Unlocking the potential of the UK 100,000 Genomes Project - Lessons learned from analysis of the "Congenital malformations caused by ciliopathies" cohort'.
Am J Med Genet A. 2022 Nov;188(11):3376-3377. doi: 10.1002/ajmg.a.62909. Epub 2022 Jul 21.
3
Comparison of Pregnancy Outcomes of Patients Treated With Ondansetron vs Alternative Antiemetic Medications in a Multinational, Population-Based Cohort.在一项跨国、基于人群的队列研究中，比较昂丹司琼与其他止吐药物治疗的患者的妊娠结局。
JAMA Netw Open. 2021 Apr 1;4(4):e215329. doi: 10.1001/jamanetworkopen.2021.5329.
4
The role of cilia for hydrocephalus formation.纤毛在脑积水形成中的作用。
Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):47-56. doi: 10.1002/ajmg.c.31972. Epub 2022 Apr 26.
5
Discovery, Diagnosis, and Etiology of Craniofacial Ciliopathies.颅面部纤毛病的发现、诊断和病因学。
Cold Spring Harb Perspect Biol. 2017 Sep 1;9(9):a028258. doi: 10.1101/cshperspect.a028258.
6
Identifying major congenital malformations in the UK General Practice Research Database (GPRD): a study reporting on the sensitivity and added value of photocopied medical records and free text in the GPRD.在英国普通实践研究数据库（GPRD）中识别主要先天畸形：一份报告 GPRD 中影印病历和自由文本的敏感性和附加价值的研究。
Drug Saf. 2010 Sep 1;33(9):741-50. doi: 10.2165/11536820-000000000-00000.
7
They SHALL grow old: a UK rare disease clinical network for adult congenital thoracic malformations.
Arch Dis Child. 2021 Jul;106(7):625-626. doi: 10.1136/archdischild-2021-321858. Epub 2021 Apr 7.
8
Miscarriage, stillbirth and congenital malformation in the offspring of UK veterans of the first Gulf war.第一次海湾战争英国退伍军人后代中的流产、死产和先天性畸形。
Int J Epidemiol. 2004 Feb;33(1):74-86. doi: 10.1093/ije/dyh049. Epub 2004 Mar 24.
9
Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies.CCDC32 基因功能丧失性突变导致一种先天性综合征，其特征为颅面、心脏和神经发育异常。
Hum Mol Genet. 2020 Jun 3;29(9):1489-1497. doi: 10.1093/hmg/ddaa073.
10
A new mouse model for the neurodevelopmental ciliopathy Joubert syndrome.一种新型神经发育性纤毛病——杰特综合征的小鼠模型。
J Pathol. 2019 Aug;248(4):393-395. doi: 10.1002/path.5291. Epub 2019 Jun 17.
引用本文的文献
1
Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project.“十万基因组计划”先天性心脏病队列中的分子诊断与候选基因鉴定
Eur J Hum Genet. 2024 Nov 26. doi: 10.1038/s41431-024-01744-2.
2
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.10 万基因组计划中的心肌病：区间评估可提高诊断率，并为正在进行的基因发现策略提供信息。
Genome Med. 2024 Oct 29;16(1):125. doi: 10.1186/s13073-024-01390-9.
3
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.一项全国性基因组测序计划中 33924 个罕见病家系中倒位的影响。
Am J Hum Genet. 2024 Jun 6;111(6):1140-1164. doi: 10.1016/j.ajhg.2024.04.018. Epub 2024 May 21.
4
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.揭示 10 万基因组计划中隐性纤毛病的负担：一种反向表型方法。
J Med Genet. 2022 Dec;59(12):1151-1164. doi: 10.1136/jmedgenet-2022-108476. Epub 2022 Jun 28.
本文引用的文献
1
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.10 万基因组计划中的纤毛病相关先天性畸形队列的分子诊断。
J Med Genet. 2022 Aug;59(8):737-747. doi: 10.1136/jmedgenet-2021-108065. Epub 2021 Oct 29.
2
Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project.纤毛病分子理解的机遇与挑战——十万基因组计划
Front Genet. 2019 Mar 11;10:127. doi: 10.3389/fgene.2019.00127. eCollection 2019.
3
Predicting Splicing from Primary Sequence with Deep Learning.深度学习预测剪接。
Cell. 2019 Jan 24;176(3):535-548.e24. doi: 10.1016/j.cell.2018.12.015. Epub 2019 Jan 17.
4
Genes and molecular pathways underpinning ciliopathies.纤毛病的基因和分子通路
Nat Rev Mol Cell Biol. 2017 Sep;18(9):533-547. doi: 10.1038/nrm.2017.60. Epub 2017 Jul 12.
Zotero 插件