Low-coverage genome sequencing is an efficient approach for the detection of clinically relevant copy-number variants and mtDNA variants

被引：0
|
作者：
Pajusalu, Sander [1 ,2 ]
Oja, Kaisa Teele [1 ,2 ]
Samarina, Ustina [2 ]
Tooming, Mikk [1 ,2 ]
Kahre, Tiina [1 ,2 ]
Ounap, Katrin [1 ,2 ]
机构：
[1] Univ Tartu, Inst Clin Med, Dept Clin Genet, Tartu, Estonia
[2] Tartu Univ Hosp, Dept Clin Genet, United Labs, Tartu, Estonia
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷
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：
P17.011.A
引用
收藏
页码：592 / 592
页数：1
相关论文
共 50 条
  • [41] Identification of copy number variants relevant to primary immunodeficiency from exome sequencing data
    Wan, Rensheng
    Schieck, Maximilian
    Hofmann, Winfried
    Knopf, Philipp H. B.
    Proietti, Michele
    de Oteyza, Andres Caballero Garcia
    Illig, Thomas
    Grimbacher, Bodo
    Steinemann, Doris
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 225 - 226
  • [42] Read count approach for DNA copy number variants detection
    Magi, Alberto
    Tattini, Lorenzo
    Pippucci, Tommaso
    Torricelli, Francesca
    Benelli, Matteo
    [J]. BIOINFORMATICS, 2012, 28 (04) : 470 - 478
  • [43] THE LOW COVERAGE WHOLE GENOME SEQUENCING FOR THE DETECTION OF VARIANTS IN THE NUMBER OF COPIES IN CHRONIC LYMPHATIC LEUKAEMIA EXCEEDS THE FISH IN REACH AND RESOLUTION
    Ariceta Ganuza, B.
    Aguilera-Diaz, A.
    Vazquez, I
    Palomino-Echeverria, S.
    Blasco-Iturri, Z.
    Larrayoz, M. J.
    Manu, A.
    Irigoyen-Barranco, A.
    Lara-Astiaso, D.
    Vilas-Zornoza, A.
    Martin-Uriz, San
    Prosper, F.
    Rifon, J.
    Arguinano, J. M.
    Cigudosa, J. C.
    Sanchez-Jimenez, P.
    Fernandez-Mercado, M.
    Calasanz, M. J.
    [J]. HAEMATOLOGICA, 2019, 104 : 174 - 174
  • [44] Sensitive and accurate detection of copy number variants using read depth of coverage
    Yoon, Seungtai
    Xuan, Zhenyu
    Makarov, Vladimir
    Ye, Kenny
    Sebat, Jonathan
    [J]. GENOME RESEARCH, 2009, 19 (09) : 1586 - 1592
  • [45] Using low-coverage whole genome sequencing technique to analyze the chromosomal copy number alterations in the exfoliative cells of cervical cancer
    Ren, Tong
    Suo, Jing
    Liu, Shikai
    Wang, Shu
    Shu, Shan
    Xiang, Yang
    Lang, Jing-He
    [J]. JOURNAL OF GYNECOLOGIC ONCOLOGY, 2018, 29 (05)
  • [46] A Robust Approach for Blind Detection of Balanced Chromosomal Rearrangements with Whole-Genome Low-Coverage Sequencing
    Dong, Zirui
    Jiang, Lupin
    Yang, Chuanchun
    Hu, Hua
    Wang, Xiuhua
    Chen, Haixiao
    Choy, Kwong Wai
    Hu, Huamei
    Dong, Yanling
    Hu, Bin
    Xu, Juchun
    Long, Yang
    Cao, Sujie
    Chen, Hui
    Wang, Wen-Jing
    Jiang, Hui
    Xu, Fengping
    Yao, Hong
    Xu, Xun
    Liang, Zhiqing
    [J]. HUMAN MUTATION, 2014, 35 (05) : 625 - 636
  • [47] Detecting inherited and novel structural variants in low-coverage parent-child sequencing data
    Spence, Melissa
    Banuelos, Mario
    Marcia, Roummel F.
    Sindi, Suzanne
    [J]. METHODS, 2020, 173 : 61 - 68
  • [48] A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data
    Rajagopalan, Ramakrishnan
    Murrell, Jill R.
    Luo, Minjie
    Conlin, Laura K.
    [J]. GENOME MEDICINE, 2020, 12 (01)
  • [49] A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data
    Ramakrishnan Rajagopalan
    Jill R. Murrell
    Minjie Luo
    Laura K. Conlin
    [J]. Genome Medicine, 12
  • [50] Detection of genome-wide copy number variants in myeloid malignancies using next-generation sequencing
    Shen, Wei
    Paxton, Christian N.
    Szankasi, Philippe
    Longhurst, Maria
    Schumacher, Jonathan A.
    Frizzell, Kimberly A.
    Sorrells, Shelly M.
    Clayton, Adam L.
    Jattani, Rakhi P.
    Patel, Jay L.
    Toydemir, Reha
    Kelley, Todd W.
    Xu, Xinjie
    [J]. JOURNAL OF CLINICAL PATHOLOGY, 2018, 71 (04) : 372 - 378
12345