Detecting copy number variations in routine diagnostic samples using next generation sequencing data

被引：0
|
作者：
Singh, Ashish Kumar [1 ]
Johansen, Jostein [2 ]
Ravi, Anuradha [2 ]
Misund, Kristine [2 ]
机构：
[1] St Olavs Hosp, Dept Med Genet, Trondheim, Norway
[2] St Olavs Hosp, Dept Med Genet, Trondheim, Norway
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：
P17.023.C
引用
收藏
页码：639 / 639
页数：1
相关论文
共 50 条
  • [41] USE OF NEXT-GENERATION SEQUENCING TO DETECT COPY NUMBER VARIATIONS IN THE MOLECULAR DIAGNOSIS OF FAMILIAL HYPERCHOLESTEROLEMIA
    Iacocca, Michael
    Wang, Jian
    Dron, Jacqueline
    Robinson, John
    Mcintyre, Adam
    Cao, Henian
    Hegele, Robert
    ATHEROSCLEROSIS, 2017, 263 : E236 - E236
  • [42] An Assessment of Copy Number Variations and Somatic Mutations in Advanced Melanomas by Clinical Next-Generation Sequencing
    Siroy, Alan E.
    Sui, Dawen
    Ning, Jing
    Luthra, Rajyalakshmi
    Patel, Keyur P.
    Routbort, Mark J.
    Broaddus, Russell R.
    Nagarajan, Priyadharsini
    Aung, Phyu P.
    Ivan, Doina
    Curry, Jonathan L.
    Torres-Cabala, Carlos A.
    Prieto, Victor G.
    Davies, Michael A.
    Lazar, Alexander J.
    Tetzlaff, Michael T.
    LABORATORY INVESTIGATION, 2017, 97 : 136A - 136A
  • [43] 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
  • [44] An Assessment of Copy Number Variations and Somatic Mutations in Advanced Melanomas by Clinical Next-Generation Sequencing
    Siroy, Alan E.
    Sui, Dawen
    Ning, Jing
    Luthra, Rajyalakshmi
    Patel, Keyur P.
    Routbort, Mark J.
    Broaddus, Russell R.
    Nagarajan, Priyadharsini
    Aung, Phyu P.
    Ivan, Doina
    Curry, Jonathan L.
    Torres-Cabala, Carlos A.
    Prieto, Victor G.
    Davies, Michael A.
    Lazar, Alexander J.
    Tetzlaff, Michael T.
    MODERN PATHOLOGY, 2017, 30 : 136A - 136A
  • [45] MUTATIONAL PROFILE AND COPY NUMBER VARIATIONS IN MYELODYSPLASTIC SYNDROMES BY HIGH-DEPTH NEXT GENERATION SEQUENCING
    Cedena, T.
    Rapado, I.
    Ayala, R.
    Martinez-Lopez, J.
    LEUKEMIA RESEARCH, 2015, 39 : S73 - S74
  • [46] Personalized copy number and segmental duplication maps using next-generation sequencing
    Can Alkan
    Jeffrey M Kidd
    Tomas Marques-Bonet
    Gozde Aksay
    Francesca Antonacci
    Fereydoun Hormozdiari
    Jacob O Kitzman
    Carl Baker
    Maika Malig
    Onur Mutlu
    S Cenk Sahinalp
    Richard A Gibbs
    Evan E Eichler
    Nature Genetics, 2009, 41 : 1061 - 1067
  • [47] Personalized copy number and segmental duplication maps using next-generation sequencing
    Alkan, Can
    Kidd, Jeffrey M.
    Marques-Bonet, Tomas
    Aksay, Gozde
    Antonacci, Francesca
    Hormozdiari, Fereydoun
    Kitzman, Jacob O.
    Baker, Carl
    Malig, Maika
    Mutlu, Onur
    Sahinalp, S. Cenk
    Gibbs, Richard A.
    Eichler, Evan E.
    NATURE GENETICS, 2009, 41 (10) : 1061 - U29
  • [48] CNV-CH: A Convex Hull Based Segmentation Approach to Detect Copy Number Variations (CNV) Using Next-Generation Sequencing Data
    Sinha, Rituparna
    Samaddar, Sandip
    De, Rajat K.
    PLOS ONE, 2015, 10 (08):
  • [49] DETECTION OF COPY NUMBER VARIATIONS (CNVS) IN LDLR GENE BY NEXT GENERATION SEQUENCING IN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA
    Scrimali, C.
    Spina, R.
    Ingrassia, V.
    Cefalu, A. B.
    Valenti, V.
    Altieri, G. I.
    Noto, D.
    Brucato, F.
    Misiano, G.
    Giammanco, A.
    Barbagallo, C. M.
    Ganci, A.
    Fayer, F.
    Averna, M. R.
    ATHEROSCLEROSIS, 2018, 275 : E154 - E154
  • [50] A Next-Generation Sequencing Based Method to Estimate Copy Number Alterations in Cancer Research Samples
    Veitch, J.
    Bankhead, A.
    Bien, G.
    Broomer, A.
    Dudas, M.
    Ha, T.
    Heath, J.
    Kaushal, R.
    Korlann, Y.
    Lacey, V.
    Nadri, A.
    Naidu, M.
    Pathak, A.
    Rozenzhak, S.
    Suttle, E.
    Topacio, D.
    Van Loy, C.
    Sadis, S.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2015, 17 (06) : 800 - 800
12345