基因组筛查和基因组诊断检测——截然不同的两码事。 - Suppr

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超能文献

Genomic screening and genomic diagnostic testing-two very different kettles of fish.

作者信息

Biesecker Leslie G

机构信息

National Human Genome Research Institute, National Institutes of Health, South Drive, Bethesda, MD, 20892, USA.

出版信息

Genome Med. 2019 Nov 27;11(1):75. doi: 10.1186/s13073-019-0696-9.

DOI:10.1186/s13073-019-0696-9

PMID:31775856

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6882020/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b45/6882020/c233b22f6b9b/13073_2019_696_Fig1_HTML.jpg

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Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.临床外显子组和基因组测序中次要发现报告的建议，2016年更新版（美国医学遗传学与基因组学学会次要发现v2.0）：美国医学遗传学与基因组学学会政策声明

Genet Med. 2017 Feb;19(2):249-255. doi: 10.1038/gim.2016.190. Epub 2016 Nov 17.

Diagnostic clinical genome and exome sequencing.诊断性临床基因组和外显子组测序

N Engl J Med. 2014 Jun 19;370(25):2418-25. doi: 10.1056/NEJMra1312543.

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.ACMG 临床外显子组和基因组测序中偶然发现报告的推荐标准。

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