Long-read genome sequencing informs the molecular etiology of imprinting disorders

被引:1
|
作者
Dixon, Katherine [1 ]
Shen, Yaoqing [2 ]
Chin, Hui-Lin [3 ]
Gazzaz, Nour [4 ]
Huynh, Stephanie [5 ]
Chan, Simon [2 ]
Zhang, Cathy [2 ]
Culibrk, Luka [2 ]
O'Neill, Kieran [2 ]
Mungall, Karen [2 ]
Mungall, Andrew [2 ]
Moore, Richard [2 ]
Gibson, William [1 ]
Chanoine, Jean-Pierre [6 ]
Boerkoel, Cornelius [1 ]
Jones, Steven [1 ]
机构
[1] Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada
[2] BC Canc, Canadas Michael Smith Genome Sci Ctr, Vancouver, BC, Canada
[3] Khoo Teck Puat Natl Univ Childrens Med Inst, Natl Univ Hosp, Singapore, Singapore
[4] King Abdulaziz Univ, Dept Pediat, Jeddah, Saudi Arabia
[5] Womens Hosp British Columbia, Prov Med Genet Program, Vancouver, BC, Canada
[6] Univ British Columbia, Dept Pediat, Vancouver, BC, Canada
关键词
D O I
10.1016/j.gim.2022.01.378
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
eP343
引用
收藏
页码:S214 / S215
页数:2
相关论文
共 50 条
  • [1] Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders
    Hiatt, Susan M.
    Lawlor, James M. J.
    Handley, Lori H.
    Ramaker, Ryne C.
    Rogers, Brianne B.
    Partridge, E. Christopher
    Boston, Lori Beth
    Williams, Melissa
    Plott, Christopher B.
    Jenkins, Jerry
    Gray, David E.
    Holt, James M.
    Bowling, Kevin M.
    Bebin, E. Martina
    Grimwood, Jane
    Schmutz, Jeremy
    Cooper, Gregory M.
    HUMAN GENETICS AND GENOMICS ADVANCES, 2021, 2 (02):
  • [2] Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders
    Hiatt, Susan
    Lawlor, James
    Handley, Lori
    Ramaker, Ryne
    Rogers, Brianne
    Partridge, Christopher
    Boston, Lori Beth
    Williams, Melissa
    Plott, Christopher
    Jenkins, Jerry
    Gray, David
    Holt, James
    Bowling, Kevin
    Bebin, Martina
    Grimwood, Jane
    Schmutz, Jeremy
    Cooper, Gregory
    MOLECULAR GENETICS AND METABOLISM, 2021, 132 : S274 - S274
  • [3] 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
  • [4] Long-read sequencing for molecular diagnostics in constitutional genetic disorders
    Conlin, Laura K.
    Aref-Eshghi, Erfan
    McEldrew, Deborah A.
    Luo, Minjie
    Rajagopalan, Ramakrishnan
    HUMAN MUTATION, 2022, 43 (11) : 1531 - 1544
  • [5] Expansion of long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders and multiple congenital anomalies
    Hiatt, Susan
    Lawlor, James
    Handley, Lori
    Bonnstetter, Zachary
    Jenkins, Jerry
    Lovell, John
    Holt, James
    Finnila, Candice
    Thompson, Michelle
    Latner, Donald
    Partridge, Christopher
    Plott, Christopher
    Boston, Lori Beth
    Williams, Melissa
    Bowling, Kevin
    Grimwood, Jane
    Schmutz, Jeremy
    Cooper, Gregory
    GENETICS IN MEDICINE, 2022, 24 (03) : S87 - S87
  • [6] 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
  • [7] Long-read human genome sequencing and its applications
    Logsdon, Glennis A.
    Vollger, Mitchell R.
    Eichler, Evan E.
    NATURE REVIEWS GENETICS, 2020, 21 (10) : 597 - 614
  • [8] Advancements in long-read genome sequencing technologies and algorithms
    Espinosa, Elena
    Bautista, Rocio
    Larrosa, Rafael
    Plata, Oscar
    GENOMICS, 2024, 116 (03)
  • [9] Improving the genome assembly of rabbits with long-read sequencing
    Bai, Yiqin
    Lin, Weili
    Xu, Jie
    Song, Jun
    Yang, Dongshan
    Chen, Y. Eugene
    Li, Lin
    Li, Yixue
    Wang, Zhen
    Zhang, Jifeng
    GENOMICS, 2021, 113 (05) : 3216 - 3223
  • [10] Long-read human genome sequencing and its applications
    Glennis A. Logsdon
    Mitchell R. Vollger
    Evan E. Eichler
    Nature Reviews Genetics, 2020, 21 : 597 - 614