Thymic epithelial tumours present the number of known and novel gene variants in molecular analysis using targeted next-generation sequencing

被引:0
作者
Szpechcinski, Adam [1 ]
Szolkowska, Malgorzata [2 ]
Winiarski, Sebastian [3 ]
Lechowicz, Urszula [1 ]
Wisniewski, Piotr [4 ]
Knetki-Wroblewska, Magdalena [5 ]
机构
[1] Inst TB & Lung Dis, Dept Genet & Clin Immunol, Warsaw, Poland
[2] Inst TB & Lung Dis, Dept Pathol, Warsaw, Poland
[3] Inst TB & Lung Dis, Clin Thorac Surg, Warsaw, Poland
[4] Maria Sklodowska Curie Natl Res Inst Oncol, Dept Pathol & Lab Med, Warsaw, Poland
[5] Maria Sklodowska Curie Natl Res Inst Oncol, Dept Lung Canc & Chest Tumours, Warsaw, Poland
关键词
D O I
10.1183/13993003.congress-2023.PA1245
中图分类号
R56 [呼吸系及胸部疾病];
学科分类号
摘要
引用
收藏
页数:3
相关论文
共 50 条
[41]   SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data [J].
Chen, Yong ;
Zhao, Li ;
Wang, Yi ;
Cao, Ming ;
Gelowani, Violet ;
Xu, Mingchu ;
Agrawal, Smriti A. ;
Li, Yumei ;
Daiger, Stephen P. ;
Gibbs, Richard ;
Wang, Fei ;
Chen, Rui .
BMC BIOINFORMATICS, 2017, 18
[42]   Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing [J].
Razman, Aimi Zafira ;
Chua, Yung-An ;
Mohd Kasim, Noor Alicezah ;
Al-Khateeb, Alyaa ;
Kadir, Siti Hamimah Sheikh Abdul ;
Jusoh, Siti Azma ;
Nawawi, Hapizah .
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2022, 23 (23)
[43]   Analysis of genetic variants in myeloproliferative neoplasms using a 22-gene next-generation sequencing panel [J].
Jaymi Tan ;
Yock Ping Chow ;
Norziha Zainul Abidin ;
Kian Meng Chang ;
Veena Selvaratnam ;
Nor Rafeah Tumian ;
Yang Ming Poh ;
Abhi Veerakumarasivam ;
Michael Arthur Laffan ;
Chieh Lee Wong .
BMC Medical Genomics, 15
[44]   Analysis of genetic variants in myeloproliferative neoplasms using a 22-gene next-generation sequencing panel [J].
Tan, Jaymi ;
Chow, Yock Ping ;
Abidin, Norziha Zainul ;
Chang, Kian Meng ;
Selvaratnam, Veena ;
Tumian, Nor Rafeah ;
Poh, Yang Ming ;
Veerakumarasivam, Abhi ;
Laffan, Michael Arthur ;
Wong, Chieh Lee .
BMC MEDICAL GENOMICS, 2022, 15 (01)
[45]   Concurrent Detection of Target Copy Number Variants and Gene Variants (SNV/indels) in CLL Samples Using a Next-Generation Sequencing Panel [J].
Georgieva, L. ;
Uddin, E. ;
Heckel, A. ;
Pullabhatla, V. ;
Reid, J. ;
Speight, G. .
JOURNAL OF MOLECULAR DIAGNOSTICS, 2019, 21 (06) :1231-1231
[46]   Targeted next-generation sequencing for the diagnosis of gene variants in patients with 46, XY disorder of sex development [J].
Guo, Qiang ;
Zhong, Wen Wen ;
Lai, Hua Jian ;
Ye, Lei ;
Zhang, Yi Fei ;
Li, Jun Tao ;
Qiu, Jian Guang ;
Wang, Dejuan .
SEXUAL DEVELOPMENT, 2023, 17 (01) :26-31
[47]   Spectrum of Non-Synonymous Variants in Appendiceal Epithelial Neoplasms Identified by Targeted Clinical Next-Generation Sequencing [J].
Goyal, Bella ;
Duncavage, Eric J. .
LABORATORY INVESTIGATION, 2016, 96 :173A-173A
[48]   Spectrum of Non-Synonymous Variants in Appendiceal Epithelial Neoplasms Identified by Targeted Clinical Next-Generation Sequencing [J].
Goyal, Bella ;
Duncavage, Eric J. .
MODERN PATHOLOGY, 2016, 29 :173A-173A
[49]   Single gene variants contribute to recurrent pregnancy loss - results from targeted next-generation sequencing [J].
Matuszewska, Karolina ;
Bukowska-Olech, Ewelina ;
Koczyk, Grzegorz ;
Popiel, Delfina ;
Dawidziuk, Adam ;
Wieckowska, Barbara ;
Piechota, Michal ;
Wisniewska, Marzena ;
Jamsheer, Aleksander ;
Latos-Bielenska, Anna .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 :93-93
[50]   DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data [J].
Kang, Yeeok ;
Nam, Seong-Hyeuk ;
Park, Kyung Sun ;
Kim, Yoonjung ;
Kim, Jong-Won ;
Lee, Eunjung ;
Ko, Jung Min ;
Lee, Kyung-A ;
Park, Inho .
BMC BIOINFORMATICS, 2018, 19