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
  • [1] Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders
    Pfundt, Rolph
    del Rosario, Marisol
    Vissers, Lisenka E. L. M.
    Kwint, Michael P.
    Janssen, Irene M.
    de Leeuw, Nicole
    Yntema, Helger G.
    Nelen, Marcel R.
    Lugtenberg, Dorien
    Kamsteeg, Erik-Jan
    Wieskamp, Nienke
    Stegmann, Alexander P. A.
    Stevens, Servi J. C.
    Rodenburg, Richard J. T.
    Simons, Annet
    Mensenkamp, Arjen R.
    Rinne, Tuula
    Gilissen, Christian
    Scheffer, Hans
    Veltman, Joris A.
    Hehir-Kwa, Jayne Y.
    [J]. GENETICS IN MEDICINE, 2017, 19 (06) : 667 - 675
  • [2] Clinically relevant copy-number variants in exome sequencing data of patients with dystonia
    Zech, Michael
    Boesch, Sylvia
    Skorvanek, Matej
    Necpal, Jan
    Svantnerova, Jana
    Wagner, Matias
    Dincer, Yasemin
    Sadr-Nabavi, Ariane
    Serranova, Teresa
    Rektorova, Irena
    Havrankova, Petra
    Ganai, Shahzaman
    Mosejova, Alexandra
    Prihodova, Iva
    Sarlakova, Jana
    Kulcsarova, Kristina
    Ulmanova, Olga
    Bechyne, Karel
    Ostrozovicova, Miriam
    Han, Vladimir
    Ventosa, Joaquim Ribeiro
    Shariati, Mohammad
    Shoeibi, Ali
    Weber, Sandrina
    Mollenhauer, Brit
    Trenkwalder, Claudia
    Berutti, Riccardo
    Strom, Tim M.
    Ceballos-Baumann, Andres
    Mall, Volker
    Haslinger, Bernhard
    Jech, Robert
    Winkelmann, Juliane
    [J]. PARKINSONISM & RELATED DISORDERS, 2021, 84 : 129 - 134
  • [3] Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterations
    James, Kiely N.
    Chowdhury, Shimul
    Ding, Yan
    Batalov, Sergey
    Watkins, Kelly
    Kwon, Yong Hyun
    Kraan, Lucitia Van Der
    Ellsworth, Katarzyna
    Kingsmore, Stephen F.
    Guidugli, Lucia
    [J]. GENETICS IN MEDICINE, 2024, 26 (01)
  • [4] Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing
    de Ligt, Joep
    Boone, Philip M.
    Pfundt, Rolph
    Vissers, Lisenka E. L. M.
    Richmond, Todd
    Geoghegan, Joel
    O'Moore, Kathleen
    de Leeuw, Nicole
    Shaw, Christine
    Brunner, Han G.
    Lupski, James R.
    Veltman, Joris A.
    Hehir-Kwa, Jayne Y.
    [J]. HUMAN MUTATION, 2013, 34 (10) : 1439 - 1448
  • [5] Performance Evaluation of NIPT in Detection of Chromosomal Copy Number Variants Using Low-Coverage Whole-Genome Sequencing of Plasma DNA
    Liu, Hongtai
    Gao, Ya
    Hu, Zhiyang
    Lin, Linhua
    Yin, Xuyang
    Wang, Jun
    Chen, Dayang
    Chen, Fang
    Jiang, Hui
    Ren, Jinghui
    Wang, Wei
    [J]. PLOS ONE, 2016, 11 (07):
  • [6] LOW COVERAGE DEPTH NANOPORE SEQUENCING IS AN ALTERNATIVE TO GENOMIC MICROARRAYS FOR DETECTION OF COPY NUMBER VARIANTS IN THE HUMAN GENOME
    Silva, Catarina
    Ferrao, Jose
    Marques, Barbara
    Pedro, Sonia
    Correia, Hildeberto
    Rodrigues, Antonio S.
    Vieira, Luis
    [J]. MEDICINE, 2023, 102 (13)
  • [7] Prenatal counseling and the detection of copy-number variants
    Benn, Peter A.
    [J]. GENETICS IN MEDICINE, 2013, 15 (04) : 316 - 317
  • [8] Validation of low-coverage whole genome sequencing assay for detection of copy number aberrations in inherited disorders
    Koskenvuo, J.
    Salmenpera, P.
    Valori, M.
    Scheinin, I.
    Gentile, M.
    Myllykangas, S.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 642 - 642
  • [9] 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.
    [J]. GENETICS IN MEDICINE, 2019, 21 (05) : 1121 - 1130
  • [10] Detection of clinically relevant genetic variants in nanophthalmos by whole genome sequencing
    Fan, Zhigang
    Guo, Congcong
    Zhao, Zhenni
    Chen, Denghui
    He, Shuxiang
    Sun, Nannan
    Li, Zhongwen
    Liu, Jiafan
    Zhang, Dandan
    Zhang, Jiamin
    Li, Jianlong
    Zhang, Miao
    Yu, Shihui
    Zhao, Weiwei
    Liu, Jingxing
    Zhang, Xiaoling
    [J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019, 60 (09)
12345