First-line genome sequencing is here to stay, but how crucial is clinical phenotyping going to be?
作者信息
Taylor James, Balasubramanian Meena
机构信息
Medical School, University of Sheffield, Sheffield, South Yorkshire, UK.
Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, South Yorkshire, UK
出版信息
BMJ Case Rep. 2022 Mar 7;15(3):e247238. doi: 10.1136/bcr-2021-247238.
Abstract
摘要
相似文献
1
First-line genome sequencing is here to stay, but how crucial is clinical phenotyping going to be?一线基因组测序已成为常态，但临床表型分析将有多关键呢？
BMJ Case Rep. 2022 Mar 7;15(3):e247238. doi: 10.1136/bcr-2021-247238.
2
High-throughput phenotyping technologies allow accurate selection of stay-green.高通量表型分析技术有助于准确筛选持绿性。
J Exp Bot. 2016 Sep;67(17):4919-24. doi: 10.1093/jxb/erw301.
3
A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping.对于进行了基本表型分析的先天性眼球震颤患者，一个小型基因测序面板实现了高诊断率。
Sci Rep. 2019 Sep 13;9(1):13229. doi: 10.1038/s41598-019-49368-7.
4
High-Throughput Genomics Identify Novel Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects.高通量基因组学鉴定严重新生儿马凡综合征和先天性心脏缺陷的新型变异。
Int J Mol Sci. 2024 May 17;25(10):5469. doi: 10.3390/ijms25105469.
5
Next-generation sequencing demands next-generation phenotyping.下一代测序需要下一代表型分析。
Hum Mutat. 2012 May;33(5):884-6. doi: 10.1002/humu.22048. Epub 2012 Mar 27.
6
Phenotype analysis of congenital and neurodevelopmental disorders in the next generation sequencing era.新一代测序时代先天性和神经发育障碍的表型分析
Am J Med Genet C Semin Med Genet. 2017 Sep;175(3):320-328. doi: 10.1002/ajmg.c.31568. Epub 2017 Aug 2.
7
Genome sequencing guide: An introductory toolbox to whole-genome analysis methods.基因组测序指南：全基因组分析方法的入门工具包。
Biochem Mol Biol Educ. 2021 Sep;49(5):815-825. doi: 10.1002/bmb.21561. Epub 2021 Aug 11.
8
Diagnostic applications of high-throughput DNA sequencing.高通量 DNA 测序的诊断应用。
Annu Rev Pathol. 2013 Jan 24;8:381-410. doi: 10.1146/annurev-pathol-020712-164026. Epub 2012 Nov 1.
9
Inherited metabolic disorders beyond the new generation sequencing era: the need for in-depth cellular and molecular phenotyping.新一代测序时代之后的遗传性代谢疾病：深入细胞和分子表型分析的必要性。
Hum Genet. 2022 Jul;141(7):1235-1237. doi: 10.1007/s00439-022-02467-4.
10
Quantitative insertion-site sequencing (QIseq) for high throughput phenotyping of transposon mutants.用于转座子突变体高通量表型分析的定量插入位点测序（QIseq）
Genome Res. 2016 Jul;26(7):980-9. doi: 10.1101/gr.200279.115. Epub 2016 May 10.
本文引用的文献
1
Next-Generation Sequencing and Emerging Technologies.下一代测序技术与新兴技术
Semin Thromb Hemost. 2019 Oct;45(7):661-673. doi: 10.1055/s-0039-1688446. Epub 2019 May 16.
2
Using whole genome scores to compare three clinical phenotyping methods in complex diseases.利用全基因组评分比较复杂疾病的三种临床表型方法。
Sci Rep. 2018 Jul 27;8(1):11360. doi: 10.1038/s41598-018-29634-w.
3
Shprintzen-Goldberg syndrome associated with first cervical vertebra defects.与第一颈椎缺陷相关的施普林曾-戈德堡综合征
Pediatr Int. 2017 Oct;59(10):1098-1100. doi: 10.1111/ped.13354. Epub 2017 Aug 31.
4
Validation of physician billing and hospitalization data to identify patients with ischemic heart disease using data from the Electronic Medical Record Administrative data Linked Database (EMRALD).利用电子病历行政数据链接数据库（EMRALD）中的数据验证医师计费和住院数据，以识别缺血性心脏病患者。
Can J Cardiol. 2010 Aug-Sep;26(7):e225-8. doi: 10.1016/s0828-282x(10)70412-8.
Zotero 插件