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ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
被引:360
|作者:
Miller, David T.
[1
]
Lee, Kristy
[2
]
Chung, Wendy K.
[3
,4
]
Gordon, Adam S.
[5
,6
]
Herman, Gail E.
[7
]
Klein, Teri E.
[8
,9
]
Stewart, Douglas R.
[10
]
Amendola, Laura M.
[11
]
Adelman, Kathy
[12
]
Bale, Sherri J.
[13
]
Gollob, Michael H.
[14
,15
]
Harrison, Steven M.
[16
]
Hershberger, Ray E.
[17
,18
]
McKelvey, Kent
[19
,20
]
Richards, C. Sue
[21
]
Vlangos, Christopher N.
[22
]
Watson, Michael S.
Martin, Christa Lese
[23
]
机构:
[1] Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA
[2] Univ N Carolina, Dept Genet, Chapel Hill, NC USA
[3] Columbia Univ, Dept Pediat, New York, NY 10027 USA
[4] Columbia Univ, Dept Med, New York, NY USA
[5] Northwestern Univ, Dept Pharmacol, Chicago, IL 60611 USA
[6] Northwestern Univ, Ctr Genet Med, Chicago, IL USA
[7] Ohio State Univ, Dept Pediat, Columbus, OH 43210 USA
[8] Stanford Univ, Dept Biomed Data Sci, Stanford, CA USA
[9] Stanford Univ, Dept Med, Stanford, CA 94305 USA
[10] NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, Rockville, MD USA
[11] Univ Washington, Div Med Genet, Seattle, WA 98195 USA
[12] Patient Advocate, Livermore, CA USA
[13] Bale Genet Consulting, Chevy Chase, MD USA
[14] Univ Toronto, Div Cardiol, Toronto, ON, Canada
[15] Univ Toronto, Dept Physiol, Toronto, ON, Canada
[16] Broad Inst MIT & Harvard, Cambridge, MA 02142 USA
[17] Ohio State Univ, Div Human Genet, Dept Internal Med, Columbus, OH USA
[18] Ohio State Univ, Div Cardiovasc Med, Dept Internal Med, Columbus, OH USA
[19] Univ Arkansas Med Sci, Dept Genet, Little Rock, AR USA
[20] Univ Arkansas Med Sci, Dept Family Med, Little Rock, AR USA
[21] Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Portland, OR USA
[22] Tempus Labs Inc, Chicago, IL USA
[23] Geisinger, Autism & Dev Med Inst, Danville, PA USA
[24] Amer Coll Med Genet & Genom, Bethesda, MD USA
关键词:
PULMONARY ARTERIAL-HYPERTENSION;
RECOMMENDATIONS;
MUTATIONS;
THERAPY;
DISEASE;
D O I:
10.1038/s41436-021-01172-3
中图分类号:
Q3 [遗传学];
学科分类号:
071007 ;
090102 ;
摘要:
[No abstract available]
引用
收藏
页码:1381 / 1390
页数:10
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