Exome copy number variant (CNV) detection, analysis, and curation from 6,678 families with undiagnosed rare genetic disease

被引：0
|
作者：
Lemire, Gabrielle [1 ,2 ,3 ,4 ]
Russell, Kathryn [1 ]
Baxter, Samantha [1 ,3 ,4 ]
Chao, Katherine [1 ,3 ,4 ]
Evangelista, Emily [1 ,2 ]
Singer-Berk, Moriel [1 ]
Sanchis-Juan, Alba [1 ,3 ,4 ]
Groopman, Emily [1 ]
Wong, Isaac [1 ,3 ,4 ]
DiTroia, Stephanie [1 ,3 ,4 ]
England, Eleina [1 ,3 ,4 ]
Goodrich, Julia [1 ,3 ,4 ]
Pais, Lynn [1 ,2 ,3 ,4 ]
Austintse, Christina [1 ,3 ,4 ]
O'Heir, Emily [1 ,3 ,4 ]
Snow, Hana [1 ]
Osei-Owusu, Ikeoluwa A. [1 ,3 ,4 ]
Fu, Jack [1 ,3 ,4 ]
MacArthur, Daniel [1 ,5 ,6 ]
Rehm, Heidi [1 ,3 ,4 ]
Talkowski, Michael [1 ,3 ,4 ]
Brand, Harrison [1 ,3 ,4 ]
O'Donnell-Luria, Anne [1 ,2 ,3 ,4 ]
机构：
[1] Broad Inst MIT & Harvard, Cambridge, MA USA
[2] Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA
[3] Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA
[4] Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA
[5] Garvan Inst, Ctr Populat Genom, Sydney, NSW, Australia
[6] Murdoch Childrens Res Inst, Ctr Populat Genom, Melbourne, Vic, Australia
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32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：
C17.2
引用
收藏
页码：45 / 45
页数：1
相关论文
共 26 条
  • [1] Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
    Lemire, Gabrielle
    Sanchis-Juan, Alba
    Russell, Kathryn
    Baxter, Samantha
    Chao, Katherine R.
    Singer-Berk, Moriel
    Groopman, Emily
    Wong, Isaac
    England, Eleina
    Goodrich, Julia
    Pais, Lynn
    Austin-Tse, Christina
    DiTroia, Stephanie
    O'Heir, Emily
    Ganesh, Vijay S.
    Wojcik, Monica H.
    Evangelista, Emily
    Snow, Hana
    Osei-Owusu, Ikeoluwa
    Fu, Jack
    Singh, Mugdha
    Mostovoy, Yulia
    Huang, Steve
    Garimella, Kiran
    Kirkham, Samantha L.
    Neil, Jennifer E.
    Shao, Diane D.
    Walsh, Christopher A.
    Argilli, Emanuela
    Le, Carolyn
    Sherr, Elliott H.
    Gleeson, Joseph G.
    Shril, Shirlee
    Schneider, Ronen
    Hildebrandt, Friedhelm
    Sankaran, Vijay G.
    Madden, Jill A.
    Genetti, Casie A.
    Beggs, Alan H.
    Agrawal, Pankaj B.
    Bujakowska, Kinga M.
    Place, Emily
    Pierce, Eric A.
    Donkervoort, Sandra
    Boennemann, Carsten G.
    Gallacher, Lyndon
    Stark, Zornitza
    Tan, Tiong Yang
    White, Susan M.
    Toepf, Ana
    AMERICAN JOURNAL OF HUMAN GENETICS, 2024, 111 (05) : 863 - 876
  • [2] Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis
    Ionita-Laza, Iuliana
    Rogers, Angela J.
    Lange, Christoph
    Raby, Benjamin A.
    Lee, Charles
    GENOMICS, 2009, 93 (01) : 22 - 26
  • [3] Whole exome sequencing-based copy number variant detection in inherited retinal disease
    Coppieters, Frauke
    Van de Sompele, Stijn
    Van Schil, Kristof
    Van Laethem, Thalia
    Six, Rani
    De Jaegere, Sarah
    Meire, Francoise
    De Vries, Meindert
    Balikova, Irina
    De Zaeytijd, Julie
    Leroy, Bart P.
    Rosseel, Toon
    De Baere, Elfride
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019, 60 (09)
  • [4] Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy
    Abou-Khalil, Bassel
    Alldredge, Brian K.
    Allen, Andrew S.
    Andermann, Eva
    Andermann, Frederick
    Amrom, Dina
    Bautista, Jocelyn F.
    Berkovic, Samuel F.
    Boro, Alex
    Cascino, Gregory
    Coe, Bradley P.
    Consalvo, Damian
    Cook, Joseph
    Cossette, Patrick
    Crumrine, Patricia
    Delanty, Norman
    Devinsky, Orrin
    Dlugos, Dennis
    Eichler, Evan E.
    Epstein, Michael P.
    Fiol, Miguel
    Fountain, Nathan B.
    French, Jacqueline
    Friedman, Daniel
    Geller, Eric B.
    Glauser, Tracy
    Glynn, Simon
    Goldstein, David B.
    Haut, Sheryl R.
    Hayward, Jean
    Heinzen, Erin L.
    Helmers, Sandra L.
    Johnson, Michael R.
    Joshi, Sucheta
    Kanner, Andres
    Kirsch, Heidi E.
    Knowlton, Robert C.
    Kossoff, Eric H.
    Krumm, Nik
    Kuperman, Rachel
    Kuzniecky, Ruben
    Lowenstein, Daniel H.
    Marson, Anthony G.
    McGuire, Shannon M.
    Mefford, Heather C.
    Motika, Paul V.
    Nelson, Ben
    Nieh, Sahar Esmaeeli
    Novotny, Edward J.
    O'Brien, Terence J.
    ANNALS OF NEUROLOGY, 2015, 78 (02) : 323 - 328
  • [5] isoCNV: in silico optimization of copy number variant detection from targeted or exome sequencing data
    Barcelona-Cabeza, Rosa
    Sanseverino, Walter
    Aiese Cigliano, Riccardo
    BMC BIOINFORMATICS, 2021, 22 (01)
  • [6] isoCNV: in silico optimization of copy number variant detection from targeted or exome sequencing data
    Rosa Barcelona-Cabeza
    Walter Sanseverino
    Riccardo Aiese Cigliano
    BMC Bioinformatics, 22
  • [7] ERDS-Exome: A Hybrid Approach for Copy Number Variant Detection from Whole-Exome Sequencing Data
    Tan, Renjie
    Wang, Jixuan
    Wu, Xiaoliang
    Juan, Liran
    Zhang, Tianjiao
    Ma, Rui
    Zhan, Qing
    Wang, Tao
    Jin, Shuilin
    Jiang, Qinghua
    Wang, Yadong
    IEEE-ACM TRANSACTIONS ON COMPUTATIONAL BIOLOGY AND BIOINFORMATICS, 2020, 17 (03) : 796 - 803
  • [8] The added diagnostic yield of copy number variant (CNV) analysis in gene panels from whole exome sequencing (WES) data: a two year experience
    Weerts, Marjolein
    Sleutels, Frank
    Hollink, Iris
    van der Helm, Robert
    Hoefsloot, Lies
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 647 - 647
  • [9] CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations
    Royer-Bertrand, Beryl
    Cisarova, Katarina
    Niel-Butschi, Florence
    Mittaz-Crettol, Laureane
    Fodstad, Heidi
    Superti-Furga, Andrea
    GENES, 2021, 12 (09)
  • [10] Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients
    Suzuki, Hisato
    Yamada, Mamiko
    Uehara, Tomoko
    Takenouchi, Toshiki
    Kosaki, Kenjiro
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (11) : 2529 - 2532
123