ACMG secondary findings 2.0

被引：8

作者：

Biesecker, Leslie G. ^{[1
]}

机构：

[1] NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USA

来源：

GENETICS IN MEDICINE | 2017年 / 19卷 / 05期

关键词：

RECOMMENDATIONS; STANDARDS;

D O I：

10.1038/gim.2017.27

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：604 / 604

页数：1

共 4 条

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Nussbaum, Robert L. ;

O'Daniel, Julianne M. ;

Ormond, Kelly E. ;

Rehm, Heidi L. ;

Watson, Michael S. ;

Williams, Marc S. ;

Biesecker, Leslie G. .

GENETICS IN MEDICINE, 2013, 15 (07) :565-574

[2] 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 [J].

Kalia, Sarah S. ;

Adelman, Kathy ;

Bale, Sherri J. ;

Chung, Wendy K. ;

Eng, Christine ;

Evans, James P. ;

Herman, Gail E. ;

Hufnagel, Sophia B. ;

Klein, Teri E. ;

Korf, Bruce R. ;

McKelvey, Kent D. ;

Ormond, Kelly E. ;

Richards, C. Sue ;

Vlangos, Christopher N. ;

Watson, Michael ;

Martin, Christa L. ;

Miller, David T. .

GENETICS IN MEDICINE, 2017, 19 (02) :249-255

[3] ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007 [J].

Richards, C. Sue ;

Bale, Sherri ;

Bellissimo, Daniel B. ;

Das, Soma ;

Grody, Wayne W. ;

Hegde, Madhuri R. ;

Lyon, Elaine ;

Ward, Brian E. .

GENETICS IN MEDICINE, 2008, 10 (04) :294-300

[4] Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology [J].

Richards, Sue ;

Aziz, Nazneen ;

Bale, Sherri ;

Bick, David ;

Das, Soma ;

Gastier-Foster, Julie ;

Grody, Wayne W. ;

Hegde, Madhuri ;

Lyon, Elaine ;

Spector, Elaine ;

Voelkerding, Karl ;

Rehm, Heidi L. .

GENETICS IN MEDICINE, 2015, 17 (05) :405-424

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