Use of long-read sequencing to improve identification and characterisation of complex structural variants in NF2-schwannomatosis

被引:0
|
作者
Perez-Becerril, Cristina [1 ,2 ]
Burghel, George [2 ]
Hartley, Claire [2 ]
Rowlands, Charles [1 ,2 ]
Evans, D. Gareth [1 ,2 ]
Smith, Miriam [1 ,2 ]
机构
[1] Univ Manchester, Div Evolut Infect & Genom, Manchester, Lancs, England
[2] Manchester Univ Hosp NHS Fdn Trust, Manchester Ctr Genom Med, Manchester, Lancs, England
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
P17.040.D
引用
收藏
页码:645 / 645
页数:1
相关论文
共 50 条
  • [31] Long-read sequencing in ecology and evolution: Understanding how complex genetic and epigenetic variants shape biodiversity
    Bock, Dan G.
    Liu, Jianquan
    Novikova, Polina
    Rieseberg, Loren H.
    MOLECULAR ECOLOGY, 2023, 32 (06) : 1229 - 1235
  • [32] Targeted adaptive long-read sequencing for discovery of complex phased variants in inherited retinal disease patients
    Nakamichi, Kenji
    Van Gelder, Russell N.
    Chao, Jennifer R.
    Mustafi, Debarshi
    SCIENTIFIC REPORTS, 2023, 13 (01)
  • [33] Pangenome obtained by long-read sequencing of 11 genomes reveal hidden functional structural variants in pigs
    Jiang, Yi-Fan
    Wang, Sheng
    Wang, Chong-Long
    Xu, Ru-Hai
    Wang, Wen-Wen
    Jiang, Yao
    Wang, Ming-Shan
    Jiang, Li
    Dai, Li-He
    Wang, Jie-Ru
    Chu, Xiao-Hong
    Zeng, Yong-Qing
    Fang, Ling-Zhao
    Wu, Dong-Dong
    Zhang, Qin
    Ding, Xiang-Dong
    ISCIENCE, 2023, 26 (03)
  • [34] Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing
    Sano, Yusuke
    Koyanagi, Yoshito
    Wong, Jing Hao
    Murakami, Yusuke
    Fujiwara, Kohta
    Endo, Mikiko
    Aoi, Tomomi
    Hashimoto, Kazuki
    Nakazawa, Toru
    Wada, Yuko
    Ueno, Shinji
    Gao, Dan
    Murakami, Akira
    Hotta, Yoshihiro
    Ikeda, Yasuhiro
    Nishiguchi, Koji M.
    Momozawa, Yukihide
    Sonoda, Koh-Hei
    Akiyama, Masato
    Fujimoto, Akihiro
    JOURNAL OF MEDICAL GENETICS, 2022, 59 (11) : 1133 - 1138
  • [35] Long-read nanopore sequencing provides fast and accurate identification of genetic variants in the human PRNP gene
    Athanasios, Dimitriadis
    Kroll, Francois
    Campbell, Tracy
    Collinge, John
    Mead, Simon
    Vire, Emmanuelle
    Collinge, John
    PRION, 2019, 13 : 56 - 56
  • [36] Targeted adaptive long-read sequencing for discovery of complex phased variants in inherited retinal disease patients
    Kenji Nakamichi
    Russell N. Van Gelder
    Jennifer R. Chao
    Debarshi Mustafi
    Scientific Reports, 13
  • [37] SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing
    Daniel Danis
    Julius O. B. Jacobsen
    Parithi Balachandran
    Qihui Zhu
    Feyza Yilmaz
    Justin Reese
    Matthias Haimel
    Gholson J. Lyon
    Ingo Helbig
    Christopher J. Mungall
    Christine R. Beck
    Charles Lee
    Damian Smedley
    Peter N. Robinson
    Genome Medicine, 14
  • [38] Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss
    Ascari, Giulia
    Rendtorff, Nanna D.
    De Bruyne, Marieke
    De Zaeytijd, Julie
    Van Lint, Michel
    Bauwens, Miriam
    Van Heetvelde, Mattias
    Arno, Gavin
    Jacob, Julie
    Creytens, David
    Van Dorpe, Jo
    Van Laethem, Thalia
    Rosseel, Toon
    De Pooter, Tim
    De Rijk, Peter
    De Coster, Wouter
    Menten, Bjorn
    Rey, Alfredo Duenas
    Strazisar, Mojca
    Bertelsen, Mette
    Tranebjaerg, Lisbeth
    De Baere, Elfride
    FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, 2021, 9
  • [39] Long-read sequencing to unravel complex structural variants of CEP78 leading to Cone-Rod Dystrophyand Hearing Loss
    Ascari, Giulia
    Rendtorff, Nanna D.
    De Bruyne, Marieke
    De Zaeytijd, Julie
    Van Lint, Michel
    Van Heetvelde, Mattias
    Arno, Gavin
    Jacob, Julie
    Creytens, David
    Van Dorpe, Jo
    Van Laethem, Thalia
    Rosseel, Toon
    De Pooter, Tim
    De Rijk, Peter
    De Coster, Wouter
    Menten, Bjorn
    Rey, Alfredo Duenas
    Strazisar, Mojca
    Bertelsen, Mette
    Tranebjaerg, Lisbeth
    De Baere, Elfride
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 45 - 45
  • [40] Using long read sequencing to identify complex structural variants in PRKN-PD
    Daida, K.
    Funayama, M.
    Miano-Burkhardt, A.
    Mailik, L.
    Billingsley, K.
    Ishiguro, M.
    Yoshino, H.
    Ogaki, K.
    Oyama, G.
    Nonaka, R.
    Akamatsu, W.
    Blauwendraat, C.
    Hattori, N.
    MOVEMENT DISORDERS, 2023, 38 : S471 - S471