Benchmarking of long-read structural variant callers using in-house generated Oxford Nanopore data

被引：0
|
作者：
De Clercq, Griet [1 ]
Van Gaever, Bram [1 ,2 ]
Vantomme, Lies [1 ]
Dheedene, Annelies [1 ]
Menten, Bjorn [1 ]
机构：
[1] Univ Ghent, Ghent Univ Hosp, Dept Biomol Med, Ctr Med Genet, Ghent, Belgium
[2] Univ Ghent, Ghent Univ Hosp, Dept Pathol, Ctr Med Genet, Ghent, Belgium
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：
P18.013.A
引用
收藏
页码：601 / 602
页数：2
相关论文
共 50 条
  • [41] Metabarcoding using nanopore long-read sequencing for the unbiased characterization of apicomplexan haemoparasites
    Huggins, Lucas G.
    Colella, Vito
    Young, Neil D.
    Traub, Rebecca J.
    MOLECULAR ECOLOGY RESOURCES, 2024, 24 (02)
  • [42] Tradeoffs in alignment and assembly-based methods for structural variant detection with long-read sequencing data
    Yichen Henry Liu
    Can Luo
    Staunton G. Golding
    Jacob B. Ioffe
    Xin Maizie Zhou
    Nature Communications, 15
  • [43] Tradeoffs in alignment and assembly-based methods for structural variant detection with long-read sequencing data
    Liu, Yichen Henry
    Luo, Can
    Golding, Staunton G.
    Ioffe, Jacob B.
    Zhou, Xin Maizie
    NATURE COMMUNICATIONS, 2024, 15 (01)
  • [44] Prion protein gene mutation detection using long-read Nanopore sequencing
    François Kroll
    Athanasios Dimitriadis
    Tracy Campbell
    Lee Darwent
    John Collinge
    Simon Mead
    Emmanuelle Vire
    Scientific Reports, 12
  • [45] Long-read single-molecule RNA structure sequencing using nanopore
    Bizuayehu, Teshome Tilahun
    Labun, Kornel
    Jakubec, Martin
    Jefimov, Kirill
    Niazi, Adnan Muhammad
    Valen, Eivind
    NUCLEIC ACIDS RESEARCH, 2022, 50 (20)
  • [46] Prion protein gene mutation detection using long-read Nanopore sequencing
    Kroll, Francois
    Dimitriadis, Athanasios
    Campbell, Tracy
    Darwent, Lee
    Collinge, John
    Mead, Simon
    Vire, Emmanuelle
    SCIENTIFIC REPORTS, 2022, 12 (01)
  • [47] Kled: an ultra-fast and sensitive structural variant detection tool for long-read sequencing data
    Zhang, Zhendong
    Jiang, Tao
    Li, Gaoyang
    Cao, Shuqi
    Liu, Yadong
    Liu, Bo
    Wang, Yadong
    BRIEFINGS IN BIOINFORMATICS, 2024, 25 (02)
  • [48] Polishing the Oxford Nanopore long-read assemblies of bacterial pathogens with Illumina short reads to improve genomic analyses
    Chen, Zhao
    Erickson, David L.
    Meng, Jianghong
    GENOMICS, 2021, 113 (03) : 1366 - 1377
  • [49] Targeted Oxford nanopore long-read sequencing of the LDLR gene with CRISPR/Cas9-mediated selection
    Skowronek, Dariush
    Pilz, Robin A.
    Gach, Agnieszka
    Kaluzewski, Tadeusz
    Bonde, Loisa
    Felbor, Ute
    Rath, Matthias
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1588 - 1588
  • [50] WGS of a cluster of MDR Shigella sonnei utilizing Oxford Nanopore R10.4.1 long-read sequencing
    Ritchie, Gordon
    Chorlton, Samuel D.
    Matic, Nancy
    Bilawka, Jennifer
    Gowland, Leah
    Leung, Victor
    Stefanovic, Aleksandra
    Romney, Marc G.
    Lowe, Christopher F.
    JOURNAL OF ANTIMICROBIAL CHEMOTHERAPY, 2024, 79 (01) : 55 - 60
12345