Copy Number Variant Detection by Targeted Gene Next-Generation Sequencing

被引：0
|
作者：
Myers, C. E. [1 ]
Nguyen, H. L. [1 ]
Hauenstein, J. [2 ]
Saxe, D. F. [1 ]
Smith, G. H. [1 ]
Hill, C. E. [1 ]
Zhang, L. [1 ]
Deeb, K. K. [1 ]
机构：
[1] Emory Univ, Sch Med, Atlanta, GA USA
[2] Emory Healthcare, Atlanta, GA USA
来源：
JOURNAL OF MOLECULAR DIAGNOSTICS | 2019年 / 21卷 / 06期
关键词：
D O I：
暂无
中图分类号：
R36 [病理学];
学科分类号：
100104 ;
摘要：
H044
引用
收藏
页码：1150 / 1151
页数：2
相关论文
共 50 条
  • [31] Detection of gene fusions using targeted next-generation sequencing: a comparative evaluation
    Heydt, Carina
    Woelwer, Christina B.
    Camacho, Oscar Velazquez
    Wagener-Ryczek, Svenja
    Pappesch, Roberto
    Siemanowski, Janna
    Rehker, Jan
    Haller, Florian
    Agaimy, Abbas
    Worm, Karl
    Herold, Thomas
    Pfarr, Nicole
    Weichert, Wilko
    Kirchner, Thomas
    Jung, Andreas
    Kumbrink, Joerg
    Goering, Wolfgang
    Esposito, Irene
    Buettner, Reinhard
    Hillmer, Axel M.
    Merkelbach-Bruse, Sabine
    BMC MEDICAL GENOMICS, 2021, 14 (01)
  • [32] Detection of gene fusions using targeted next-generation sequencing: a comparative evaluation
    Carina Heydt
    Christina B. Wölwer
    Oscar Velazquez Camacho
    Svenja Wagener-Ryczek
    Roberto Pappesch
    Janna Siemanowski
    Jan Rehker
    Florian Haller
    Abbas Agaimy
    Karl Worm
    Thomas Herold
    Nicole Pfarr
    Wilko Weichert
    Thomas Kirchner
    Andreas Jung
    Jörg Kumbrink
    Wolfgang Goering
    Irene Esposito
    Reinhard Buettner
    Axel M. Hillmer
    Sabine Merkelbach-Bruse
    BMC Medical Genomics, 14
  • [33] A Partner Agnostic Approach for Gene Fusion Detection with Targeted Next-Generation Sequencing
    Marcovitz, A.
    Gottimukkala, R. K.
    Bee, G. G.
    Kilzer, J. M.
    Mital, V. K.
    Van Loy, C.
    Myrand, S. P.
    Sadis, S.
    Hyland, F. C.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2019, 21 (06): : 1224 - 1224
  • [34] Gene Copy Number Estimation from Targeted Next-Generation Sequencing of Prostate Cancer Biopsies: Analytic Validation and Clinical Qualification
    Seed, George
    Yuan, Wei
    Mateo, Joaquin
    Carreira, Suzanne
    Bertan, Claudia
    Lambros, Maryou
    Boysen, Gunther
    Ferraldeschi, Roberta
    Miranda, Susana
    Figueiredo, Ines
    Riisnaes, Ruth
    Crespo, Mateus
    Rodrigues, Daniel Nava
    Talevich, Eric
    Robinson, Dan R.
    Kunju, Lakshmi P.
    Wu, Yi-Mi
    Lonigro, Robert
    Sandhu, Shahneen
    Chinnayan, Arul
    de Bono, Johann S.
    CLINICAL CANCER RESEARCH, 2017, 23 (20) : 6070 - 6077
  • [35] Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia
    Iacocca, Michael A.
    Wang, Jian
    Dron, Jacqueline S.
    Robinson, John F.
    McIntyre, Adam D.
    Cao, Henian
    Hegele, Robert A.
    JOURNAL OF LIPID RESEARCH, 2017, 58 (11) : 2202 - 2209
  • [36] Validation of copy number variation analysis for next-generation sequencing diagnostics
    Jamie M Ellingford
    Christopher Campbell
    Stephanie Barton
    Sanjeev Bhaskar
    Saurabh Gupta
    Rachel L Taylor
    Panagiotis I Sergouniotis
    Bradley Horn
    Janine A Lamb
    Michel Michaelides
    Andrew R Webster
    William G Newman
    Binay Panda
    Simon C Ramsden
    Graeme CM Black
    European Journal of Human Genetics, 2017, 25 : 719 - 724
  • [37] Validation of copy number variation analysis for next-generation sequencing diagnostics
    Ellingford, Jamie M.
    Campbell, Christopher
    Barton, Stephanie
    Bhaskar, Sanjeev
    Gupta, Saurabh
    Taylor, Rachel L.
    Sergouniotis, Panagiotis I.
    Horn, Bradley
    Lamb, Janine A.
    Michaelides, Michel
    Webster, Andrew R.
    Newman, William G.
    Panda, Binay
    Ramsden, Simon C.
    Black, Graeme C. M.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2017, 25 (06) : 719 - 724
  • [38] Detection of Significant Copy Number Variations From Multiple Samples in Next-Generation Sequencing Data
    Yuan, Xiguo
    Zhang, Junying
    Yang, Liying
    Bai, Jun
    Fan, Peizhen
    IEEE TRANSACTIONS ON NANOBIOSCIENCE, 2018, 17 (01) : 12 - 20
  • [39] Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing
    Tendi, Elisabetta Anna
    Morello, Giovanna
    Guarnaccia, Maria
    La Cognata, Valentina
    Petralia, Salvatore
    Messina, Maria Anna
    Meli, Concetta
    Fiumara, Agata
    Ruggieri, Martino
    Cavallaro, Sebastiano
    BIOMEDICINES, 2023, 11 (07)
  • [40] Development of a comprehensive and highly sensitive next-generation sequencing assay for detection of copy number variations
    Hsieh, Chia-Ling
    Zlatkov, Clare
    Luo, Byron
    Zhao, Chen
    Stephens, Kathryn
    Chuang, Han-Yu
    Kelly, Lisa
    Chang, Katherine
    Liang, Rachel
    Cao, Jianli
    Lang, Scott
    Adams, Ashley
    Ajili, Naseem
    Ball, Laurel
    Caves, Glorianna
    Chou, Danny
    Clark, Katie
    Crain, Brian
    Daulo, Anthony
    Dumm, Sarah
    Ekram, Ridwana
    Han, Yonmee
    Jager, Anne
    Johansen, Suzanne
    Teng, Li
    Lococo, Jenn
    McLean, Jaime
    Parks, Juli
    Rostron, Jason
    Sayne, Jennifer
    Silhavy, Jennifer
    Snedecor, June
    Toh, Mckenzi
    Tong, Stephanie
    Upsall, Elizabeth
    Walichiewicz, Pauline
    Chen, Xiao
    Young, Amanda
    Kuraishy, Ali
    Gutekunst, Karen
    Friedenberg, Matt
    Lin, Charles
    CANCER RESEARCH, 2016, 76
12345