Exome sequencing in a large cohort of individuals with VATER/VACTERL association for identification of disease-causing variants in disease-associated genes and prioritization of candidate genes

被引：0
|
作者：
Comic, Jasmina [1 ,2 ]
Riedhammer, Korbinian M. [1 ,2 ]
Vill, Katharina [3 ,4 ]
Abazi-Emini, Nora [5 ]
Seitz, Barbara [6 ]
Braunisch, Matthias C. [1 ,2 ]
Brugger, Mela-Nie [1 ]
Tasic, Velibor [5 ]
Reutter, Heiko [7 ]
Hoefele, Julia [1 ]
机构：
[1] Tech Univ Munich, Klinikum Rechts Isar, Sch Med, Inst Human Genet, Munich, Germany
[2] Tech Univ Munich, Klinikum Rechts Isar, Sch Med, Dept Nephrol, Munich, Germany
[3] Ludwig Maximilians Univ Munchen, LMU Hosp, Dr Hauner Childrens Hosp, Dept Pediat Neurol & Dev Med, Munich, Germany
[4] LMU, Ctr Children Med Complexity, Munich, Germany
[5] Univ Childrens Hosp, Med Fac Skopje, Dept Pediat Nephrol, Skopje, North Macedonia
[6] KfH Kuratorium Dialyse & Nierentransplantat EV, KfH Board Trustees Dialysis & Kidney Transplantat, Neu Isenburg, Germany
[7] Univ Erlangen Nurnberg, Dept Neonatol & Pedi atric Intens Care, Erlangen, Germany
来源：
PEDIATRIC NEPHROLOGY | 2023年 / 38卷 / 07期
关键词：
D O I：
暂无
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
P1-046
引用
收藏
页码：2287 / 2288
页数：2
相关论文
共 50 条
  • [21] A Whole Transcriptome Sequencing Pipeline for the Identification and Characterisation of Disease-Causing Genes in Primary Immunodeficiency Diseases
    Menzel, V.
    Fasshauer, M.
    Sack, U.
    Borte, M.
    Borte, S.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 : S153 - S153
  • [22] Exome sequencing of senescence-accelerated mice (SAM) reveals deleterious mutations in degenerative disease-causing genes
    Kumpei Tanisawa
    Eri Mikami
    Noriyuki Fuku
    Yoko Honda
    Shuji Honda
    Ikuro Ohsawa
    Masafumi Ito
    Shogo Endo
    Kunio Ihara
    Kinji Ohno
    Yuki Kishimoto
    Akihito Ishigami
    Naoki Maruyama
    Motoji Sawabe
    Hiroyoshi Iseki
    Yasushi Okazaki
    Sanae Hasegawa-Ishii
    Shiro Takei
    Atsuyoshi Shimada
    Masanori Hosokawa
    Masayuki Mori
    Keiichi Higuchi
    Toshio Takeda
    Mitsuru Higuchi
    Masashi Tanaka
    BMC Genomics, 14
  • [23] cepip: context-dependent epigenomic weighting for prioritization of regulatory variants and disease-associated genes
    Li, Mulin Jun
    Li, Miaoxin
    Liu, Zipeng
    Yan, Bin
    Pan, Zhicheng
    Huang, Dandan
    Liang, Qian
    Ying, Dingge
    Xu, Feng
    Yao, Hongcheng
    Wang, Panwen
    Kocher, Jean-Pierre A.
    Xia, Zhengyuan
    Sham, Pak Chung
    Liu, Jun S.
    Wang, Junwen
    GENOME BIOLOGY, 2017, 18
  • [24] cepip: context-dependent epigenomic weighting for prioritization of regulatory variants and disease-associated genes
    Mulin Jun Li
    Miaoxin Li
    Zipeng Liu
    Bin Yan
    Zhicheng Pan
    Dandan Huang
    Qian Liang
    Dingge Ying
    Feng Xu
    Hongcheng Yao
    Panwen Wang
    Jean-Pierre A. Kocher
    Zhengyuan Xia
    Pak Chung Sham
    Jun S. Liu
    Junwen Wang
    Genome Biology, 18
  • [25] A gene-agnostic trio exome strategy maximises diagnostic yield by uncovering disease-causing variants in newly discovered disease genes
    Baptista, J.
    Stals, K.
    De Franco, E.
    Mallin, L.
    Fryer, V.
    Wakeling, M.
    Parrish, A.
    Johnson, A.
    Settle, J.
    Caswell, R.
    Tysoe, C.
    Baple, E.
    Ellard, S.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1635 - 1635
  • [26] Exome sequencing of a large multi-ethnic moyamoya (MMD) patient population reveals novel disease-associated genes and provides evidence for ethnic specificity in MMD disease variants
    Shoemaker, Lori
    Clark, Michael
    Patwardhan, Anil
    Cook, D. J.
    Steinberg, Gary
    ANGIOGENESIS, 2014, 17 (01) : 309 - 309
  • [27] Identification of genes associated with Kikuchi-Fujimoto disease using RNA and exome sequencing
    Anuntakarun, Songtham
    Larbcharoensub, Noppadol
    Payungporn, Sunchai
    Reamtong, Onrapak
    MOLECULAR AND CELLULAR PROBES, 2021, 57
  • [28] A web-based interactive framework to assist in the prioritization of disease candidate genes in whole-exome sequencing studies
    Aleman, Alejandro
    Garcia-Garcia, Francisco
    Salavert, Francisco
    Medina, Ignacio
    Dopazo, Joaquin
    NUCLEIC ACIDS RESEARCH, 2014, 42 (W1) : W88 - W93
  • [29] Using Long-read RNA sequencing for the identification of novel transcripts in disease-causing muscle genes
    Johari, M.
    Ravenscroft, G.
    NEUROMUSCULAR DISORDERS, 2023, 33 : S110 - S110
  • [30] Identification of disease-associated genome variants in regulatory regions using exome sequencing in 295 POAG cases
    Gaasterland, Terry
    Gaasterland, Douglas E.
    Edsall, Lee E.
    Dubinsky, Amy N.
    Ding, Kuan-Fu
    Head, Steven
    Willert, Karl H.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2014, 55 (13)
12345