XCAVATOR: accurate detection and genotyping of copy number variants from second and third generation whole-genome sequencing experiments

被引：0
|
作者：
Alberto Magi
Tommaso Pippucci
Carlo Sidore
机构：
[1] University of Florence,Department of Experimental and Clinical Medicine
[2] University of Bologna,Medical Genetics Unit, Department of Medical and Surgical Sciences, Polyclinic Sant’Orsola
[3] Cittadella Universitaria di Cagliari,Malpighi
来源：
BMC Genomics | / 18卷
关键词：
CNVs; HMM; Whole-Genome Sequencing;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [41] DETECTION OF UROTHELIAL CARCINOMA BASED ON COPY NUMBER PROFILES OF URINARY CFDNA USING SHALLOW WHOLE-GENOME SEQUENCING
    Gong, Yanqing
    Ge, Guangzhe
    Peng, Ding
    Guan, Bao
    Zhou, Yuanyuan
    Ci, Weimin
    Li, Xuesong
    Zhou, Liqun
    JOURNAL OF UROLOGY, 2020, 203 : E6 - E6
  • [42] ACE: absolute copy number estimation from low-coverage whole-genome sequencing data
    Poell, Jos B.
    Mendeville, Matias
    Sie, Daoud
    Brink, Arjen
    Brakenhoff, Ruud H.
    Ylstra, Bauke
    BIOINFORMATICS, 2019, 35 (16) : 2847 - 2849
  • [43] Comparison of different copy number variations (CNVs) detection tools using whole-genome sequencing (WGS) data
    Rodriguez Hidalgo, Maria
    Miranda, Jose I.
    Lara-Lopez, Araceli
    Reparaz-Bonilla, Iraia
    Irigoyen, Cristina
    Ruiz-Ederra, Javier
    Maynou, Joan
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 294 - 294
  • [44] A machine-learning approach for accurate detection of copy number variants from exome sequencing
    Pounraja, Vijay Kumar
    Jayakar, Gopal
    Jensen, Matthew
    Kelkar, Neil
    Girirajan, Santhosh
    GENOME RESEARCH, 2019, 29 (07) : 1134 - 1143
  • [45] Validation of Copy Number Variants Detection from Pregnant Plasma Using Low-Pass Whole-Genome Sequencing in Noninvasive Prenatal Testing-Like Settings
    Hyblova, Michaela
    Harsanyova, Maria
    Nikulenkov-Grochova, Diana
    Kadlecova, Jitka
    Kucharik, Marcel
    Budis, Jaroslav
    Minarik, Gabriel
    DIAGNOSTICS, 2020, 10 (08)
  • [46] Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing
    de Ligt, Joep
    Boone, Philip M.
    Pfundt, Rolph
    Vissers, Lisenka E. L. M.
    Richmond, Todd
    Geoghegan, Joel
    O'Moore, Kathleen
    de Leeuw, Nicole
    Shaw, Christine
    Brunner, Han G.
    Lupski, James R.
    Veltman, Joris A.
    Hehir-Kwa, Jayne Y.
    HUMAN MUTATION, 2013, 34 (10) : 1439 - 1448
  • [47] NPSV: A simulation-driven approach to genotyping structural variants in whole-genome sequencing data
    Linderman, Michael D.
    Paudyal, Crystal
    Shakeel, Musab
    Kelley, William
    Bashir, Ali
    Gelb, Bruce D.
    GIGASCIENCE, 2021, 10 (07):
  • [48] An exhaustive algorithm for detecting copy number aberrations and large structural variants in whole-genome mate-pair sequencing data
    Asmann, Yan W.
    Wang, Chen
    Necela, Brian M.
    Chen, Xianfeng
    Kocher, Jean-Pierre A.
    Maurer, Matthew J.
    Habermann, Thomas M.
    Slager, Susan L.
    Feldman, Andrew L.
    Novak, Anne J.
    Cerhan, James R.
    Perez, Edith A.
    Thompson, E. Aubrey
    CANCER RESEARCH, 2015, 75
  • [49] A Survey of Copy Number Variation in the Porcine Genome Detected From Whole-Genome Sequence
    Keel, Brittney N.
    Nonneman, Dan J.
    Lindholm-Perry, Amanda K.
    Oliver, William T.
    Rohrer, Gary A.
    FRONTIERS IN GENETICS, 2019, 10
  • [50] JAX-CNV: A Whole-genome Sequencing-based Algorithm for Copy Number Detection at Clinical Grade Level
    Wan-Ping Lee
    Qihui Zhu
    Xiaofei Yang
    Silvia Liu
    Eliza Cerveira
    Mallory Ryan
    Adam Mil-Homens
    Lauren Bellfy
    Kai Ye
    Charles Lee
    Chengsheng Zhang
    Genomics,Proteomics & Bioinformatics, 2022, (06) : 1197 - 1206
12345