High coverage NGS of mtDNA proofs apparent de novo variant to be in fact not de novo

被引:0
|
作者
Ahting, U. [1 ]
Lorenz-Depireux, B. [2 ]
Berutti, R. [2 ]
Radivojkov-Blagojevic, M. [2 ]
Radelfahr, F. [3 ]
Stendel, C. [3 ]
Walther, J. U. [1 ]
机构
[1] TUM, Inst Humangenet, Munich, Germany
[2] Helmholtz Zentrum Munchen, Inst Humangenet, Neuherberg, Germany
[3] Friedrich Baur Inst, Munich, Germany
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
P06.31.C
引用
收藏
页码:295 / 295
页数:1
相关论文
共 50 条
  • [1] De novo and apparent de novo hepatitis B virus infection after liver transplantation
    Roche, B
    Samuel, D
    Gigou, M
    Feray, C
    Virot, V
    Schmets, L
    David, MF
    Arulnaden, JL
    Bismuth, A
    Reynes, M
    Bismuth, H
    JOURNAL OF HEPATOLOGY, 1997, 26 (03) : 517 - 526
  • [2] Conveying recurrence risk for an apparent de novo pathogenic variant: What should the counseling be?
    Pode-Shakked, Ben
    Shohat, Tamy
    Rock, Rachel
    Chorin, Odelia
    Raas-Rothschild, Annick
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 338 - 338
  • [3] Selectivity over coverage in de novo sequencing of IgGs
    den Boer, Maurits A.
    Greisch, Jean-Francois
    Tamara, Sem
    Bondt, Albert
    Heck, Albert J. R.
    CHEMICAL SCIENCE, 2020, 11 (43) : 11886 - 11896
  • [4] Microcephaly in an Afro-Caribbean individual with an apparent de novo variant in TUBG1
    Idries, Mohamed
    Donald, Tyhiesia
    Bhoj, Elizabeth
    Timms, Andrew
    Mirzaa, Ghayda
    Sobering, Andrew
    MOLECULAR GENETICS AND METABOLISM, 2021, 132 : S147 - S148
  • [6] Prospects for de novo phasing with de novo protein models
    Das, Rhiju
    Baker, David
    ACTA CRYSTALLOGRAPHICA SECTION D-BIOLOGICAL CRYSTALLOGRAPHY, 2009, 65 : 169 - 175
  • [7] Advances in De Novo Synthesis and De Novo Design of Biomacromolecules
    Xu Xin-Dong
    Qi Peng-Xiang
    Lan Wei-Bing
    Chen Yu-Ying
    Chen Shan
    PROGRESS IN BIOCHEMISTRY AND BIOPHYSICS, 2019, 46 (08) : 772 - 786
  • [8] Acorn: an R package for de novo variant analysis
    Turner T.N.
    BMC Bioinformatics, 2023, 24 (01)
  • [9] De novo-Transkriptom- und Expressionsanalyse mit kombinierter NGS
    Axel W. Strittmatter
    Daniel C. Richter
    Patrick Olbermann
    Sven Krappmann
    BIOspektrum, 2011, 17 (4) : 434 - 436
  • [10] A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2
    María Elena Rodríguez-García
    Francisco Javier Cotrina-Vinagre
    Alexandra N. Olson
    María Teresa Sánchez-Calvin
    Ana Martínez de Aragón
    Rogelio Simón de Las Heras
    Jonathan D. Dinman
    Bert B. A. de Vries
    Maria João Nabais Sá
    Pilar Quijada-Fraile
    Francisco Martínez-Azorín
    Journal of Human Genetics, 2023, 68 : 543 - 550