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2017 年 KidGen 肾脏遗传学研讨会会议报告。

Meeting report of the 2017 KidGen Renal Genetics Symposium.

机构信息

Department of Nephrology, Monash Medical Centre, Melbourne, Australia.

KidGen Renal Genetics Flagship, Australian Genomic Health Alliance, Melbourne, Australia.

出版信息

Hum Genomics. 2018 Jan 30;12(1):5. doi: 10.1186/s40246-018-0137-7.

DOI:10.1186/s40246-018-0137-7
PMID:29382385
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5791341/
Abstract

The 2017 KidGen Renal Genetics Symposium was held at the Royal Children's Hospital and Murdoch Children's Research Institute, Melbourne, from 6 to 8 December 2017. This meeting addressed clinical, diagnostic, and research aspects of inherited kidney disease. More than 100 clinicians, researchers, and patient representatives attended the conference. The overall goal was to improve the understanding and direction of genomics in renal medicine in Australia and discuss barriers to the use of genomic testing within this area. It also aimed to strengthen collaborations between local, state, and global research and diagnostic and clinical groups.

摘要

2017 年儿童肾脏遗传学研讨会于 2017 年 12 月 6 日至 8 日在澳大利亚墨尔本的皇家儿童医院和默多克儿童研究所举行。本次会议涉及遗传性肾脏疾病的临床、诊断和研究方面。超过 100 名临床医生、研究人员和患者代表参加了会议。总体目标是提高澳大利亚肾脏医学中基因组学的认识和方向,并讨论该领域基因组检测应用的障碍。它还旨在加强当地、州和全球研究以及诊断和临床小组之间的合作。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9889/5791341/5e54cb407653/40246_2018_137_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9889/5791341/5e54cb407653/40246_2018_137_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9889/5791341/5e54cb407653/40246_2018_137_Fig1_HTML.jpg

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本文引用的文献

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Clin J Am Soc Nephrol. 2018 Jan 6;13(1):53-62. doi: 10.2215/CJN.04120417. Epub 2017 Nov 10.
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Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.大规模平行测序和家族性肾脏疾病的靶向外显子组测序可诊断潜在的遗传疾病。
Kidney Int. 2017 Dec;92(6):1493-1506. doi: 10.1016/j.kint.2017.06.013. Epub 2017 Aug 23.
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Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
全基因组测序扩大了诊断效用并改善了儿科医学的临床管理。
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Is "incidental finding" the best term?: a study of patients' preferences.“偶然发现”是最佳术语吗?:一项关于患者偏好的研究
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