Whole genome sequencing inadvertently reveals first degree consanguinity: A clinical case

被引:0
|
作者
Atanasoska, Maya [1 ,2 ]
Vazharova, Radoslava [1 ,3 ]
Balabanski, Lubomir [1 ]
Staykova, Slavyana [1 ]
Bradinova, Irena [1 ,4 ]
Avdjieva-Tzavella, Daniela [5 ]
Toncheva, Draga [1 ,6 ]
机构
[1] GMDL CellGenet, Sofia, Bulgaria
[2] Sofia Univ St Kliment Ohridski, Dept Genet, Fac Biol, Sofia, Bulgaria
[3] Sofia Univ St Kliment Ohridski, Dept Biol, Fac Med, Med Genet & Microbiol, Sofia, Bulgaria
[4] Natl Genet Lab, UHOG Maichin dom, Sofia, Bulgaria
[5] Med Univ, Univ Pediat Hosp, Dept Clin Genet, Sofia, Bulgaria
[6] Bulgarian Acad Sci, Sofia, Bulgaria
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
P24.023.C
引用
收藏
页码:764 / 765
页数:2
相关论文
共 50 条
  • [31] Clinical use of whole genome sequencing for Mycobacterium tuberculosis
    Witney, Adam A.
    Cosgrove, Catherine A.
    Arnold, Amber
    Hinds, Jason
    Stoker, Neil G.
    Butcher, Philip D.
    BMC MEDICINE, 2016, 14
  • [32] Clinical Interpretation and Implications of Whole-Genome Sequencing
    Dewey, Frederick E.
    Grove, Megan E.
    Pan, Cuiping
    Goldstein, Benjamin A.
    Bernstein, Jonathan A.
    Chaib, Hassan
    Merker, Jason D.
    Goldfeder, Rachel L.
    Enns, Gregory M.
    David, Sean P.
    Pakdaman, Neda
    Ormond, Kelly E.
    Caleshu, Colleen
    Kingham, Kerry
    Klein, Teri E.
    Whirl-Carrillo, Michelle
    Sakamoto, Kenneth
    Wheeler, Matthew T.
    Butte, Atul J.
    Ford, James M.
    Boxer, Linda
    Ioannidis, John P. A.
    Yeung, Alan C.
    Altman, Russ B.
    Assimes, Themistocles L.
    Snyder, Michael
    Ashley, Euan A.
    Quertermous, Thomas
    JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2014, 311 (10): : 1035 - 1044
  • [33] Clinical whole-genome sequencing in cancer diagnosis
    Hou, Ying-Chen C.
    Neidich, Julie A.
    Duncavage, Eric J.
    Spencer, David H.
    Schroeder, Molly C.
    HUMAN MUTATION, 2022, 43 (11) : 1519 - 1530
  • [34] Implementation of clinical whole genome sequencing in paediatric epilepsy
    Henry, O. J.
    Ygberg, S.
    Barbaro, M.
    Lesko, N.
    Karlsson, L.
    Pena-Perez, L.
    Bergquist, A. Bavner
    Tohonen, V.
    Stranneheim, H.
    Lindstrand, A.
    Stodberg, T.
    Wedell, A.
    EPILEPSIA, 2024, 65 : 477 - 478
  • [35] Clinical Analysis of Whole Genome Sequencing in Cancer Patients
    Berner, Alison May
    Morrissey, George J.
    Murugaesu, Nirupa
    CURRENT GENETIC MEDICINE REPORTS, 2019, 7 (02) : 136 - 143
  • [36] Clinical Analysis of Whole Genome Sequencing in Cancer Patients
    Alison May Berner
    George J. Morrissey
    Nirupa Murugaesu
    Current Genetic Medicine Reports, 2019, 7 : 136 - 143
  • [37] Clinical Diagnosis through Whole-Genome Sequencing
    Hurst, Anna C. E.
    Wilk, Melissa A.
    Holt, James M.
    Lyon, Elaine
    Bick, David
    CLINICAL CHEMISTRY, 2020, 66 (01) : 261 - 262
  • [38] Validation of whole genome sequencing in routine clinical practice
    Monkhorst, K.
    Samsom, K.
    Schipper, L.
    Roepman, P.
    Bosch, L.
    de Bruijn, E.
    Hoes, L. R.
    Riethorst, I.
    Schoenmaker, L.
    van der Kolk, L.
    Buffart, T.
    van der Hoeven, K.
    Voest, E. E.
    Cuppen, E.
    Meijer, G.
    ANNALS OF ONCOLOGY, 2020, 31 : S784 - S784
  • [39] Whole genome sequencing of clinical isolates of Giardia lamblia
    Hanevik, K.
    Bakken, R.
    Brattbakk, H. R.
    Saghaug, C. S.
    Langeland, N.
    CLINICAL MICROBIOLOGY AND INFECTION, 2015, 21 (02) : 192.e1 - 192.e3
  • [40] Clinical Whole Genome Sequencing in Inherited Retinal Dystrophies
    Jobanputra, V.
    Rehman, A.
    Thomas, A.
    Guha, S.
    Poisner, H.
    Wilson, A.
    Abhyankar, A.
    Tsang, S.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2020, 22 (05): : S16 - S17