DNA sequence capture array and next generation sequencing to identify new disease-causing genes: the case of hypertrophic cardiomyopathy

被引：0
|
作者：
D'Argenio, V. [1 ,2 ]
Frisso, G. [1 ,2 ]
Precone, V. [1 ]
Boccia, A. [1 ]
Limongelli, G. [3 ]
Pacileo, G. [3 ]
Fienga, A. [2 ]
Calabro, R. [3 ]
Paolel-la, G. [1 ,2 ]
Salvatore, F. [1 ,4 ]
机构：
[1] CEINGE Biotecnol Avanzate Scarl, Naples, Italy
[2] Univ Naples Federico 2, Dipartimento Biochim & Biotecnol Med, Naples, Italy
[3] Univ Naples 2, UOC Cardiol AO Monaldi, Naples, Italy
[4] IRCCS Fdn SDN, Naples, Italy
来源：
FEBS JOURNAL | 2011年 / 278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：
引用
收藏
页码：283 / 283
页数：1
相关论文
共 50 条
  • [41] Collaborative science in the next-generation sequencing era: a viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes
    Hart, Steven N.
    Maxwell, Kara N.
    Thomas, Tinu
    Ravichandran, Vignesh
    Wubberhorst, Bradley
    Klein, Robert J.
    Schrader, Kasmintan
    Szabo, Csilla
    Weitzel, Jeffrey N.
    Neuhausen, Susan L.
    Nathanson, Katherine
    Offit, Kenneth
    Couch, Fergus J.
    Vijai, Joseph
    BRIEFINGS IN BIOINFORMATICS, 2016, 17 (04) : 672 - 677
  • [42] Factors predicting the occurrence of disease-causing variants on next-generation sequencing in children with steroid-resistant nephrotic syndrome — implications for resource-constrained settings
    Anit Kaur
    Aaqib Zaffar Banday
    Lesa Dawman
    Amit Rawat
    Karalanglin Tiewsoh
    Pediatric Nephrology, 2023, 38 : 3663 - 3670
  • [43] Factors predicting the occurrence of disease-causing variants on next-generation sequencing in children with steroid-resistant nephrotic syndrome - implications for resource-constrained settings
    Kaur, Anit
    Banday, Aaqib Zaffar
    Dawman, Lesa
    Rawat, Amit
    Tiewsoh, Karalanglin
    PEDIATRIC NEPHROLOGY, 2023, 38 (11) : 3663 - 3670
  • [44] Sequence capture approaches coupled to next generation sequencing to identify candidate somatic mutations in human tumors, and germ-line mutations predisposing human cancers
    Burgess, Daniel
    Rodesch, Matthew
    Bainbridge, Matthew
    Nazareth, Lynne
    Boland, Joseph
    Munzy, Donna
    Kitzman, Jacob
    D'Ascenzo, Mark
    Matthews, Casey
    Amundadottir, Laufrey
    Dannenberg, Luke
    Zhang, Xinmin
    Richmond, Todd
    Jeddeloh, Jeffrey
    Albert, Thomas
    Channock, Stephen
    Gibbs, Richard
    CANCER RESEARCH, 2009, 69
  • [45] Next-generation sequencing and high-throughput enzymolomebased panel screening of suspected lysosomal disease cases identifies multiple disease-causing variants in two genes underlying different lysosomal diseases: A source of clinical and metabolic variability?
    del Castillo, Francisco J.
    Dominguez-Ruiz, Maria
    Hammoud, Miloud
    Ortiz-Galeana, Magdalena A.
    Assiri, Imane
    Piris-Villaespesa, Miguel
    Carrillo-Farga, Joaquin
    Fdil, Naima
    Jenkins, Robert
    Ferrer, Manuel
    Villarrubia Espinosa, Jesus
    MOLECULAR GENETICS AND METABOLISM, 2023, 138 (02) : 32 - 32
  • [46] First application of next-generation sequencing in patients with hypertrophic cardiomyopathy in Morocco and report of a novel frameshift mutation of MYBPC3 gene: Case report
    Adadi, Najlae
    Zrhidri, Abdelali
    Fellat, Ibtissam
    Bouzelmat, Hicham
    Benzaroual, Dounia
    Bouhouch, Rachida
    Radi, Fatima Zohra
    Lyahyai, Jaber
    Ratbi, Ilham
    Sefiani, Abdelaziz
    META GENE, 2019, 22
  • [47] Noninvasive Prenatal Test for β-Thalassemia and Sickle Cell Disease Using Probe Capture Enrichment and Next-Generation Sequencing of DNA in Maternal Plasma
    Erlich, Henry A.
    Lopez-Pena, Christian
    Carlberg, Katie T.
    Shih, Shelly
    Bali, Gunmeet
    Yamaguchi, Ken D.
    Salamon, Hugh
    Das, Reena
    Lal, Ashutosh
    Calloway, Cassandra D.
    JOURNAL OF APPLIED LABORATORY MEDICINE, 2022, 7 (02): : 515 - 531
  • [48] Molecular Characterization of Escherichia coli Causing Urinary Tract Infections Through Next-Generation Sequencing: A Comprehensive Analysis of Serotypes, Sequence Types, and Antimicrobial and Virulence Genes
    Kandi, Venkataramana
    Shahapur, Praveen R.
    Suvvari, Tarun Kumar
    Bharadwaj, Vallab Ganesh
    Rajalakshmi, Chitra P.
    Shahapur, Roopa
    Podaralla, Eswar
    Godishala, Vikram
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2024, 16 (03)
  • [49] Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances
    Cerminara, Maria
    Spirito, Giovanni
    Pisciotta, Livia
    Squillario, Margherita
    Servetti, Martina
    Divizia, Maria Teresa
    Lerone, Margherita
    Berloco, Bianca
    Boeri, Silvia
    Nobili, Lino
    Vozzi, Diego
    Sanges, Remo
    Gustincich, Stefano
    Puliti, Aldamaria
    FRONTIERS IN GENETICS, 2021, 12
  • [50] Next-generation-sequencing-based risk stratification and identification of new genes involved in structural and sequence variations in near haploid lymphoblastic leukemia
    Chen, Cai
    Bartenhagen, Christoph
    Gombert, Michael
    Okpanyi, Vera
    Binder, Vera
    Roettgers, Silja
    Bradtke, Jutta
    Teigler-Schlegel, Andrea
    Harbott, Jochen
    Ginzel, Sebastian
    Thiele, Ralf
    Fischer, Ute
    Dugas, Martin
    Hu, Jianda
    Borkhardt, Arndt
    GENES CHROMOSOMES & CANCER, 2013, 52 (06): : 564 - 579
12345