Screening for causative structural variants in neurological disorders using long-read sequencing

被引：0
|
作者：
Ekholm, J. [1 ]
Kujawa, S. [1 ]
Tsai, Y. [1 ]
Greenberg, D. [1 ]
Hon, T. [1 ]
Eng, K. [1 ]
Wenger, A. [1 ]
Tseng, E. [1 ]
Wang, J. [2 ]
Jarosz, M. [2 ]
Giorda, K. [2 ]
Clark, T. [1 ]
机构：
[1] Pacific Biosci, Menlo Pk, CA USA
[2] Integrated DNA Technol, Coralville, IA USA
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2018年 / 26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：
P14.089A
引用
收藏
页码：671 / 672
页数：2
相关论文
共 50 条
  • [1] Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders
    Zamora-Canovas, Ana
    Morena-Barrio, Belen de la
    Marin-Quilez, Ana
    Sierra-Aisa, Cristina
    Malea, Christoph
    Fernandez-Mosteirin, Nuria
    Trapero-Marugan, Maria
    Padilla, Jose
    Garrido-Rodriguez, Pedro
    Sanchez-Fuentes, Ana
    Rodriguez-Alen, Agustin
    Gomez-Gonzalez, Pedro Luis
    Revilla, Nuria
    de la Morena-Barrio, Maria Eugenia
    Bastida, Jose Maria
    Corral, Javier
    Rivera, Jose
    Lozano, Maria L.
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2024, 22 (03) : 851 - 859
  • [2] Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing
    Alba Sanchis-Juan
    Jonathan Stephens
    Courtney E. French
    Nicholas Gleadall
    Karyn Mégy
    Christopher Penkett
    Olga Shamardina
    Kathleen Stirrups
    Isabelle Delon
    Eleanor Dewhurst
    Helen Dolling
    Marie Erwood
    Detelina Grozeva
    Luca Stefanucci
    Gavin Arno
    Andrew R. Webster
    Trevor Cole
    Topun Austin
    Ricardo Garcia Branco
    Willem H. Ouwehand
    F. Lucy Raymond
    Keren J. Carss
    Genome Medicine, 10
  • [3] Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing
    Sanchis-Juan, Alba
    Stephens, Jonathan
    French, Courtney E.
    Gleadall, Nicholas
    Megy, Karyn
    Penkett, Christopher
    Shamardina, Olga
    Stirrups, Kathleen
    Delon, Isabelle
    Dewhurst, Eleanor
    Dolling, Helen
    Erwood, Marie
    Grozeva, Detelina
    Stefanucci, Luca
    Arno, Gavin
    Webster, Andrew R.
    Cole, Trevor
    Austin, Topun
    Branco, Ricardo Garcia
    Ouwehand, Willem H.
    Raymond, F. Lucy
    Carss, Keren J.
    GENOME MEDICINE, 2018, 10
  • [4] Improved Characterization of Complex β-Globin Gene Cluster Structural Variants Using Long-Read Sequencing
    Rangan, Aruna
    Hein, Molly S.
    Jenkinson, William G.
    Koganti, Tejaswi
    Aleff, Ross A.
    Hilker, Christopher A.
    Blommel, Joseph H.
    Porter, Tavanna R.
    Swanson, Kenneth C.
    Lundquist, Patrick
    Nguyen, Phuong L.
    Shi, Min
    He, Rong
    Viswanatha, David S.
    Jen, Jin
    Klee, Eric W.
    Kipp, Benjamin R.
    Hoyer, James D.
    Wieben, Eric D.
    Oliveira, Jennifer L.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2021, 23 (12): : 1732 - 1740
  • [5] Analysis of β-Globin Cluster Crossover Variants Using Long-Read Sequencing
    Rangan, Aruna
    Koganti, Teja
    Swanson, Kenneth
    Hein, Molly
    Zhang, Xi
    He, Rong
    Viswanatha, David
    Hoyer, James
    Herrick, Jennifer
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2024, 26 (06): : S22 - S22
  • [6] Application of long-read sequencing to the detection of structural variants in human cancer genomes
    Sakamoto, Yoshitaka
    Zaha, Suzuko
    Suzuki, Yutaka
    Seki, Masahide
    Suzuki, Ayako
    COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL, 2021, 19 : 4207 - 4216
  • [7] Genome sequencing using long-read sequencing
    McEwen, Juan Guillermo
    Gomez, Oscar Mauricio
    REVISTA DE LA ACADEMIA COLOMBIANA DE CIENCIAS EXACTAS FISICAS Y NATURALES, 2023, 47 (183): : 439 - 444
  • [8] Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases
    Damian, Alejandra
    Nunez-Moreno, Gonzalo
    Jubin, Claire
    Tamayo, Alejandra
    de Alba, Marta Rodriguez
    Villaverde, Cristina
    Fund, Cedric
    Delepine, Marc
    Leduc, Aurelie
    Deleuze, Jean Francois
    Minguez, Pablo
    Ayuso, Carmen
    Corton, Marta
    HUMAN GENOMICS, 2023, 17 (01)
  • [9] Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases
    Alejandra Damián
    Gonzalo Núñez-Moreno
    Claire Jubin
    Alejandra Tamayo
    Marta Rodríguez de Alba
    Cristina Villaverde
    Cédric Fund
    Marc Delépine
    Aurélie Leduc
    Jean François Deleuze
    Pablo Mínguez
    Carmen Ayuso
    Marta Corton
    Human Genomics, 17
  • [10] 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
12345