Evaluation of the 2019 ACMG-ClinGen guidelines for interpretation of copy-number variants with borderline classifications at an academic clinical diagnostics laboratory

被引:0
|
作者
Drackley, Andy [1 ]
Brew, Casey [1 ]
Wlodaver, Alissa [1 ]
Spencer, Sara [2 ]
Leuer, Katrin Carlson [1 ]
Rathbun, Pamela [1 ]
Wieneke, Xuwen [1 ]
Yap, Kai Lee [1 ]
Ing, Alexander [1 ]
机构
[1] Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USA
[2] Northwestern Med, Chicago, IL USA
关键词
D O I
10.1016/j.gim.2022.01.582
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
OP034
引用
收藏
页码:S362 / S362
页数:1
相关论文
共 10 条
  • [1] Adaptation of ACMG-ClinGen Technical Standards for Copy Number Variant Interpretation Concordance
    Zhang, Kuo
    Lin, Guigao
    Han, Dongsheng
    Han, Yanxi
    Peng, Rongxue
    Li, Jinming
    FRONTIERS IN GENETICS, 2022, 13
  • [2] Utility and Outcomes of the 2019 American College of Medical Genetics and Genomics-Clinical Genome Resource Guidelines for Interpretation of Copy Number Variants with Borderline Classifications at an Academic Clinical Diagnostic Laboratory
    Drackley, Andy
    Brew, Casey
    Wlodaver, Alissa
    Spencer, Sara
    Leuer, Katrin
    Rathbun, Pamela
    Charrow, Joel
    Wieneke, Xuwen
    Yap, Kai Lee
    Ing, Alexander
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2022, 24 (10): : 1100 - 1111
  • [3] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)
    Riggs, Erin Rooney
    Andersen, Erica F.
    Cherry, Athena M.
    Kantarci, Sibel
    Kearney, Hutton
    Patel, Ankita
    Raca, Gordana
    Ritter, Deborah I.
    South, Sarah T.
    Thorland, Erik C.
    Pineda-Alvarez, Daniel
    Aradhya, Swaroop
    Martin, Christa Lese
    GENETICS IN MEDICINE, 2020, 22 (02) : 245 - 257
  • [4] Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants (vol 49, pg 689, 2019)
    Brandt, Tracy
    Sack, Laura M.
    Arjona, Dolores
    Tan, Duanjun
    Mei, Hui
    Cui, Hong
    Gao, Hua
    Bean, Lora J. H.
    Ankala, Arunkanth
    Del Gaudio, Daniela
    Johnson, Amy Knight
    Vincent, Lisa M.
    Reavey, Caitlin
    Lai, Amy
    Richard, Gabriele
    Meck, Jeanne M.
    GENETICS IN MEDICINE, 2020, 22 (03) : 670 - 671
  • [5] Correspondence on "Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)" by Riggs et al
    Spurdle, Amanda B.
    Drackley, Andrew
    Ing, Alexande
    Tudini, Emma
    Yap, Kai L.
    Tavtigian, Sean V.
    GENETICS IN MEDICINE, 2023, 25 (08)
  • [6] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) (vol 22, pg 245, 2020)
    Riggs, Erin Rooney
    Andersen, Erica F.
    Cherry, Athena M.
    Kantarci, Sibel
    Kearney, Hutton
    Patel, Ankita
    Raca, Gordana
    Ritter, Deborah I.
    South, Sarah T.
    Thorland, Erik C.
    Pineda-Alvarez, Daniel
    Aradhya, Swaroop
    Martin, Christa Lese
    GENETICS IN MEDICINE, 2021, 23 (11) : 2230 - 2230
  • [7] CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online
    Macnee, Marie
    Perez-Palma, Eduardo
    Bruenger, Tobias
    Kloeckner, Chiara
    Platzer, Konrad
    Stefanski, Arthur
    Montanucci, Ludovica
    Bayat, Allan
    Radtke, Maximilian
    Collins, Ryan L.
    Talkowski, Michael
    Blankenberg, Daniel
    Moller, Rikke S.
    Lemke, Johannes R.
    Nothnagel, Michael
    May, Patrick
    Lal, Dennis
    BIOINFORMATICS, 2023, 39 (05)
  • [8] Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease
    Gross, Andrew M.
    Ajay, Subramanian S.
    Rajan, Vani
    Brown, Carolyn
    Bluske, Krista
    Burns, Nicole J.
    Chawla, Aditi
    Coffey, Alison J.
    Malhotra, Alka
    Scocchia, Alicia
    Thorpe, Erin
    Dzidic, Natasa
    Hovanes, Karine
    Sahoo, Trilochan
    Dolzhenko, Egor
    Lajoie, Bryan
    Khouzam, Amirah
    Chowdhury, Shimul
    Belmont, John
    Roller, Eric
    Ivakhno, Sergii
    Tanner, Stephen
    McEachern, Julia
    Hambuch, Tina
    Eberle, Michael
    Hagelstrom, R. Tanner
    Bentley, David R.
    Perry, Denise L.
    Taft, Ryan J.
    GENETICS IN MEDICINE, 2019, 21 (05) : 1121 - 1130
  • [9] Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders (vol 706, pg 162, 2019)
    Magini, Pamela
    Scarano, Emanuela
    Donati, Ilaria
    Sensi, Alberto
    Mazzanti, Laura
    Perri, Annamaria
    Tamburrino, Federica
    Mongelli, Patrizia
    Percesepe, Antonio
    Visconti, Paola
    Parmeggiani, Antonia
    Seri, Marco
    Graziano, Claudio
    GENE, 2020, 735
  • [10] Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC)
    Mikhail, Fady M.
    Biegel, Jadyn A.
    Cooley, Linda D.
    Dubuc, Adrian M.
    Hirsch, Betsy
    Horner, Vanessa L.
    Newman, Scott
    Shao, Lina
    Wolff, Daynna J.
    Raca, Gordana
    GENETICS IN MEDICINE, 2019, 21 (09) : 1903 - 1915