直接面向消费者的外显子组测序中的遗传咨询：一例报告 - Suppr

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超能文献

Genetic counseling in direct-to-consumer exome sequencing: a case report.

作者信息

van den Berg Saskia, Shen Yaoqing, Jones Steven J M, Gibson William T

机构信息

Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada,

出版信息

J Genet Couns. 2014 Oct;23(5):742-53. doi: 10.1007/s10897-014-9737-0. Epub 2014 Jun 24.

DOI:10.1007/s10897-014-9737-0

PMID:24954083

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4156788/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/738d/8246429/8c219bd82fd3/10897_2014_9737_Fig1_HTML.jpg

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Clinical whole-exome sequencing for the diagnosis of mendelian disorders.临床全外显子测序用于孟德尔疾病的诊断。

N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. Epub 2013 Oct 2.

Actionable, pathogenic incidental findings in 1,000 participants' exomes.1000 名参与者外显子组中的可操作、致病性偶然发现。

Am J Hum Genet. 2013 Oct 3;93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. Epub 2013 Sep 19.

Incidental findings in clinical genomics: a clarification.临床基因组学中的偶然发现：一项澄清

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