An openly available online tool for implementing the ACMG/AMP standards and guidelines for the interpretation of sequence variants

被引:85
作者
Kleinberger, Jeffrey [1 ]
Maloney, Kristin A. [1 ]
Pollin, Toni I. [1 ]
Jeng, Linda Jo Bone [1 ]
机构
[1] Univ Maryland, Sch Med, Dept Med, Div Endocrinol Diabet & Nutr,Program Personalized, Baltimore, MD 21201 USA
关键词
D O I
10.1038/gim.2016.13
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:1165 / 1165
页数:1
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  • [1] Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes
    Flannick, Jason
    Beer, Nicola L.
    Bick, Alexander G.
    Agarwala, Vineeta
    Molnes, Janne
    Gupta, Namrata
    Burtt, Noel P.
    Florez, Jose C.
    Meigs, James B.
    Taylor, Herman
    Lyssenko, Valeriya
    Irgens, Henrik
    Fox, Ervin
    Burslem, Frank
    Johansson, Stefan
    Brosnan, M. Julia
    Trimmer, Jeff K.
    Newton-Cheh, Christopher
    Tuomi, Tiinamaija
    Molven, Anders
    Wilson, James G.
    O'Donnell, Christopher J.
    Kathiresan, Sekar
    Hirschhorn, Joel N.
    Njolstad, Pal R.
    Rolph, Tim
    Seidman, J. G.
    Gabriel, Stacey
    Cox, David R.
    Seidman, Christine E.
    Groop, Leif
    Altshuler, David
    [J]. NATURE GENETICS, 2013, 45 (11) : 1380 - +
  • [2] 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
    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.
    [J]. GENETICS IN MEDICINE, 2015, 17 (05) : 405 - 424