Long-read sequencing settings for efficient structural variation detection based on comprehensive evaluation

被引：0
|
作者：
Tao Jiang
Shiqi Liu
Shuqi Cao
Yadong Liu
Zhe Cui
Yadong Wang
Hongzhe Guo
机构：
[1] Harbin Institute of Technology,Faculty of Computing
来源：
BMC Bioinformatics | / 22卷
关键词：
Long-read sequencing; SV calling; Coverage; Read length; Sequencing error; Comprehensive evaluation;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [31] Long-Read Annotation: Automated Eukaryotic Genome Annotation Based on Long-Read cDNA Sequencing
    Cook, David E.
    Valle-Inclan, Jose Espejo
    Pajoro, Alice
    Rovenich, Hanna
    Thomma, Bart P. H. J.
    Faino, Luigi
    PLANT PHYSIOLOGY, 2019, 179 (01) : 38 - 54
  • [32] 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)
  • [33] A Long-Read Sequencing Approach for Direct Haplotype Phasing in Clinical Settings
    Maestri, Simone
    Maturo, Maria Giovanna
    Cosentino, Emanuela
    Marcolungo, Luca
    Iadarola, Barbara
    Fortunati, Elisabetta
    Rossato, Marzia
    Delledonne, Massimo
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2020, 21 (23) : 1 - 16
  • [34] Transcriptome variation in human tissues revealed by long-read sequencing
    Glinos, Dafni A.
    Garborcauskas, Garrett
    Hoffman, Paul
    Ehsan, Nava
    Jiang, Lihua
    Gokden, Alper
    Dai, Xiaoguang
    Aguet, Francois
    Brown, Kathleen L.
    Garimella, Kiran
    Bowers, Tera
    Costello, Maura
    Ardlie, Kristin
    Jian, Ruiqi
    Tucker, Nathan R.
    Ellinor, Patrick T.
    Harrington, Eoghan D.
    Tang, Hua
    Snyder, Michael
    Juul, Sissel
    Mohammadi, Pejman
    MacArthur, Daniel G.
    Lappalainen, Tuuli
    Cummings, Beryl
    NATURE, 2022, 608 (7922) : 353 - +
  • [35] Transcriptome variation in human tissues revealed by long-read sequencing
    Dafni A. Glinos
    Garrett Garborcauskas
    Paul Hoffman
    Nava Ehsan
    Lihua Jiang
    Alper Gokden
    Xiaoguang Dai
    François Aguet
    Kathleen L. Brown
    Kiran Garimella
    Tera Bowers
    Maura Costello
    Kristin Ardlie
    Ruiqi Jian
    Nathan R. Tucker
    Patrick T. Ellinor
    Eoghan D. Harrington
    Hua Tang
    Michael Snyder
    Sissel Juul
    Pejman Mohammadi
    Daniel G. MacArthur
    Tuuli Lappalainen
    Beryl B. Cummings
    Nature, 2022, 608 : 353 - 359
  • [36] in silico Long-Read Sequencing from FFPE Solid Tumor Tissue for Structural Variation Detection and Phasing in Archival Specimens
    Costa, H. A.
    Blanchette, M.
    Bustamante, C. D.
    Green, R. E.
    Hadley, P. D.
    Kunder, C.
    Putnam, N.
    Rice, B.
    Trolf, C.
    Zehnder, J. L.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2017, 19 (06): : 1034 - 1035
  • [37] A survey of algorithms for the detection of genomic structural variants from long-read sequencing data
    Mian Umair Ahsan
    Qian Liu
    Jonathan Elliot Perdomo
    Li Fang
    Kai Wang
    Nature Methods, 2023, 20 : 1143 - 1158
  • [38] A survey of algorithms for the detection of genomic structural variants from long-read sequencing data
    Ahsan, Mian Umair
    Liu, Qian
    Perdomo, Jonathan Elliot
    Fang, Li
    Wang, Kai
    NATURE METHODS, 2023, 20 (08) : 1143 - 1158
  • [39] Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping
    De Clercq, Griet
    Vantomme, Lies
    Dewaele, Barbara
    Callewaert, Bert
    Vanakker, Olivier
    Janssens, Sandra
    Loeys, Bart
    Strazisar, Mojca
    De Coster, Wouter
    Vermeesch, Joris Robert
    Dheedene, Annelies
    Menten, Bjoern
    SCIENTIFIC REPORTS, 2024, 14 (01):
  • [40] Machine Learning-Based Artifact Detection for Long-Read Sequencing Data
    Mbuga, Felix
    Lam, Kathy
    Lee, Wendy
    2023 INTERNATIONAL CONFERENCE ON COMPUTATIONAL SCIENCE AND COMPUTATIONAL INTELLIGENCE, CSCI 2023, 2023, : 582 - 584
12345