ACMG guides on the interpretation of sequence variants

被引:0
|
作者
Orli G. Bahcall
机构
来源
Nature Reviews Genetics | 2015年 / 16卷
关键词
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:257 / 257
相关论文
共 50 条
  • [1] GENETIC TESTING ACMG guides on the interpretation of sequence variants
    Bahcall, Orli G.
    NATURE REVIEWS GENETICS, 2015, 16 (05) : 257 - 257
  • [2] The ACMG/AMP reputable source criteria for the interpretation of sequence variants
    Biesecker, Leslie G.
    Harrison, Steven M.
    GENETICS IN MEDICINE, 2018, 20 (12) : 1687 - 1688
  • [3] The ACMG/AMP reputable source criteria for the interpretation of sequence variants Response
    Richards, C. 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, 2018, 20 (12) : 1689 - 1690
  • [4] Tailoring the ACMG/AMP sequence variant interpretation guidelines to the unique aspects of germline ACADVL variants
    Flowers, May
    Weaver, Meredith
    Baudet, Heather
    Pasquali, Marzia
    Enns, Gregory
    Feigenbaum, Annette
    Lyon, Elaine
    Miller, Marcus
    Graham, Brett
    Spector, Elaine
    Racacho, Lemuel
    McLachlan, Michael
    Sadre-Bazzaz, Kianoush
    Harris, Heather
    Wang, Yang
    Dickson, Alexa
    Mao, Rong
    MOLECULAR GENETICS AND METABOLISM, 2021, 132 : S254 - S254
  • [5] ACMG recommendations for standards for interpretation of sequence variations
    Kazazian, HA
    Boehm, CD
    Seltzer, WK
    GENETICS IN MEDICINE, 2000, 2 (05) : 302 - 303
  • [6] An openly available online tool for implementing the ACMG/AMP standards and guidelines for the interpretation of sequence variants
    Kleinberger, Jeffrey
    Maloney, Kristin A.
    Pollin, Toni I.
    Jeng, Linda Jo Bone
    GENETICS IN MEDICINE, 2016, 18 (11) : 1165 - 1165
  • [7] Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
    Maria Pia Leone
    Silvia Morlino
    Grazia Nardella
    Riccardo Pracella
    Daniela Giachino
    Luca Celli
    Demetrio Baldo
    Licia Turolla
    Maria Piccione
    Emanuela Salzano
    Martina Busè
    Patrizia Lastella
    Marcella Zollino
    Rachele Cantone
    Enrico Grosso
    Andrea Zonta
    Barbara Pasini
    Carmelo Piscopo
    Ilaria De Maggio
    Manuela Priolo
    Corrado Mammi
    Thomas Foiadelli
    Chiara Trabatti
    Salvatore Savasta
    Achille Iolascon
    Alessandro Ferraris
    Valentina Lodato
    Niccolò Di Giosaffatte
    Silvia Majore
    Angelo Selicorni
    Antonio Petracca
    Carmela Fusco
    Mauro Celli
    Vito Guarnieri
    Lucia Micale
    Marco Castori
    Human Genetics, 2023, 142 : 785 - 808
  • [8] Web-Based App for Implementing the ACMG 2015 Guidelines for Standardized Interpretation of Germ line Sequence Variants
    Riedlinger, G.
    Nikiforova, M.
    Nikiforov, Y.
    Roy, S.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2015, 17 (06): : 803 - 803
  • [9] Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
    Leone, Maria Pia
    Morlino, Silvia
    Nardella, Grazia
    Pracella, Riccardo
    Giachino, Daniela
    Celli, Luca
    Baldo, Demetrio
    Turolla, Licia
    Piccione, Maria
    Salzano, Emanuela
    Buse, Martina
    Lastella, Patrizia
    Zollino, Marcella
    Cantone, Rachele
    Grosso, Enrico
    Zonta, Andrea
    Pasini, Barbara
    Piscopo, Carmelo
    De Maggio, Ilaria
    Priolo, Manuela
    Mammi, Corrado
    Foiadelli, Thomas
    Trabatti, Chiara
    Savasta, Salvatore
    Iolascon, Achille
    Ferraris, Alessandro
    Lodato, Valentina
    Di Giosaffatte, Niccolo
    Majore, Silvia
    Selicorni, Angelo
    Petracca, Antonio
    Fusco, Carmela
    Celli, Mauro
    Guarnieri, Vito
    Micale, Lucia
    Castori, Marco
    HUMAN GENETICS, 2023, 142 (06) : 785 - 808
  • [10] ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
    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