Assessing the digenic model in rare disorders using population whole-genome sequencing data

被引:0
|
作者
Moreno-Ruiz, Nerea [1 ,2 ]
Lao, Oscar [1 ]
Ignacio Arostegui, Juan [4 ,5 ]
Laayouni, Hafid [1 ,6 ]
Casals, Ferran [7 ]
机构
[1] UPF, Dept Expt & Hlth Sci, Inst Evolutionary Biol, CSIC, Barcelona, Spain
[2] Univ Pompeu Fabra, Dept Expt & Hlth Sci, Genom Core Facil, Barcelona, Spain
[3] Genom England, London, England
[4] Hosp Clin Inst Invest Biomed August Pi i Sunyer, Dept Immunol, Barcelona, Spain
[5] Univ Barcelona, Sch Med, Barcelona, Spain
[6] UPF, Bioinformat Studies, ESCI, Barcelona, Spain
[7] Univ Barcelona, Dept Genet Microbiol & Stat, Barcelona, Spain
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
P16.008.D
引用
收藏
页码:579 / 579
页数:1
相关论文
共 50 条
  • [1] Assessing the digenic model in rare disorders using population sequencing data
    Moreno-Ruiz, Nerea
    Lao, Oscar
    Arostegui, Juan Ignacio
    Laayouni, Hafid
    Casals, Ferran
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (12) : 1439 - 1443
  • [2] Assessing the digenic model in rare disorders using population sequencing data
    Nerea Moreno-Ruiz
    Oscar Lao
    Juan Ignacio Aróstegui
    Hafid Laayouni
    Ferran Casals
    European Journal of Human Genetics, 2022, 30 : 1439 - 1443
  • [3] Deciphering the Population Characteristics of Leiqiong Cattle Using Whole-Genome Sequencing Data
    Guo, Yingwei
    Zhao, Zhihui
    Ge, Fei
    Yu, Haibin
    Lyu, Chenxiao
    Liu, Yuxin
    Li, Junya
    Chen, Yan
    ANIMALS, 2025, 15 (03):
  • [4] Population analysis of the Korean native duck using whole-genome sequencing data
    Lee, Daehwan
    Lee, Jongin
    Heo, Kang-Neung
    Kwon, Kisang
    Moon, Youngbeen
    Lim, Dajeong
    Lee, Kyung-Tai
    Kim, Jaebum
    BMC GENOMICS, 2020, 21 (01)
  • [5] Population analysis of the Korean native duck using whole-genome sequencing data
    Daehwan Lee
    Jongin Lee
    Kang-Neung Heo
    Kisang Kwon
    Youngbeen Moon
    Dajeong Lim
    Kyung-Tai Lee
    Jaebum Kim
    BMC Genomics, 21
  • [6] The Addis Ababa Lions: Whole-Genome Sequencing of a Rare and Precious Population
    Barazandeh, Marjan
    Kriti, Divya
    Fickel, Joerns
    Nislow, Corey
    GENOME BIOLOGY AND EVOLUTION, 2024, 16 (02):
  • [7] Assessing telomeric DNA content in pediatric cancers using whole-genome sequencing data
    Parker, Matthew
    Chen, Xiang
    Bahrami, Armita
    Dalton, James
    Rusch, Michael
    Wu, Gang
    Easton, John
    Cheung, Nai-Kong
    Dyer, Michael
    Mardis, Elaine R.
    Wilson, Richard K.
    Mullighan, Charles
    Gilbertson, Richard
    Baker, Suzanne J.
    Zambetti, Gerard
    Ellison, David W.
    Downing, James R.
    Zhang, Jinghui
    GENOME BIOLOGY, 2012, 13 (12)
  • [8] Assessing telomeric DNA content in pediatric cancers using whole-genome sequencing data
    Matthew Parker
    Xiang Chen
    Armita Bahrami
    James Dalton
    Michael Rusch
    Gang Wu
    John Easton
    Nai-Kong Cheung
    Michael Dyer
    Elaine R Mardis
    Richard K Wilson
    Charles Mullighan
    Richard Gilbertson
    Suzanne J Baker
    Gerard Zambetti
    David W Ellison
    James R Downing
    Jinghui Zhang
    Genome Biology, 13
  • [9] PennCNV in whole-genome sequencing data
    Lima, Leandro de Araujo
    Wang, Kai
    BMC BIOINFORMATICS, 2017, 18
  • [10] PennCNV in whole-genome sequencing data
    Leandro de Araújo Lima
    Kai Wang
    BMC Bioinformatics, 18