建议将HFE C282Y纯合子纳入美国医学遗传学与基因组学学会（ACMG）可操作基因列表：逃避之举还是迈向群体筛查的隐秘行动？ - Suppr

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超能文献

Recommending inclusion of HFE C282Y homozygotes in the ACMG actionable gene list: cop-out or stealth move toward population screening?

作者信息

Laberge Anne-Marie

机构信息

Department of Pediatrics, Université de Montréal, Montreal, Quebec, Canada.

Medical Genetics and Research Center, CHU Sainte-Justine, Montreal, Quebec, Canada.

出版信息

Genet Med. 2018 Apr;20(4):400-402. doi: 10.1038/gim.2017.161. Epub 2017 Oct 19.

DOI:10.1038/gim.2017.161

PMID:29048418

Abstract

摘要

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

Am J Hum Genet. 2015 Oct 1;97(4):512-20. doi: 10.1016/j.ajhg.2015.08.008. Epub 2015 Sep 10.

A Systematic Review and Narrative Synthesis of Health Economic Studies Conducted for Hereditary Haemochromatosis.针对遗传性血色素沉着症开展的健康经济学研究的系统评价与叙述性综合分析

Appl Health Econ Health Policy. 2015 Oct;13(5):469-83. doi: 10.1007/s40258-015-0189-y.

The quality of hereditary haemochromatosis guidelines: a comparative analysis.遗传性血色素沉着症指南的质量：一项比较分析。

Clin Res Hepatol Gastroenterol. 2015 Apr;39(2):205-14. doi: 10.1016/j.clinre.2014.09.001. Epub 2014 Oct 23.

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。

Genet Med. 2013 Jul;15(7):565-74. doi: 10.1038/gim.2013.73. Epub 2013 Jun 20.

Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network.全基因组关联研究个体研究结果的回报：电子病历和基因组学（eMERGE）网络的经验。

Genet Med. 2012 Apr;14(4):424-31. doi: 10.1038/gim.2012.15. Epub 2012 Feb 23.

Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases.血色素沉着症的诊断与管理：美国肝病研究协会2011年实践指南

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