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 49 条
  • [41] Detection of PKD1 and PKD2 Somatic Variants in Autosomal Dominant Polycystic Kidney Cyst Epithelial Cells by Whole-Genome Sequencing
    Zhang, Zhengmao
    Bai, Hanwen
    Blumenfeld, Jon
    Ramnauth, Andrew B.
    Barash, Irina
    Prince, Martin
    Tan, Adrian Y.
    Michaeel, Alber
    Liu, Genyan
    Chicos, Ines
    Rennert, Lior
    Giannakopoulos, Stavros
    Larbi, Karen
    Hughes, Stuart
    Salvatore, Steven P.
    Robinson, Brian D.
    Kapur, Sandip
    Rennert, Hanna
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2021, 32 (12): : 3114 - 3129
  • [42] Detection of Minority Variants and Mixed Infections in Mycobacterium tuberculosis by Direct Whole-Genome Sequencing on Noncultured Specimens Using a Specific-DNA Capture Strategy
    Lozano, Nuria
    Lanza, Val F.
    Suarez-Gonzalez, Julia
    Herranz, Marta
    Sola-Campoy, Pedro J.
    Rodriguez-Grande, Cristina
    Buenestado-Serrano, Sergio
    Jesus Ruiz-Serrano, Maria
    Tudo, Griselda
    Alcaide, Fernando
    Munoz, Patricia
    Garcia de Viedma, Dario
    Perez-Lago, Laura
    MSPHERE, 2021, 6 (06)
  • [43] Detecting rare copy number variants from Illumina genotyping arrays with the CamCNV pipeline: Segmentation of z-scores improves detection and reliability
    Dennis, Joe
    Walker, Logan
    Tyrer, Jonathan
    Michailidou, Kyriaki
    Easton, Douglas F.
    GENETIC EPIDEMIOLOGY, 2021, 45 (03) : 237 - 248
  • [44] Association of common and rare variants with Alzheimer's disease in more than 13,000 diverse individuals with whole-genome sequencing from the Alzheimer's Disease Sequencing Project
    Lee, Wan-Ping
    Choi, Seung Hoan
    Shea, Margaret G.
    Cheng, Po-Liang
    Dombroski, Beth A.
    Pitsillides, Achilleas N.
    Heard-Costa, Nancy L.
    Wang, Hui
    Bulekova, Katia
    Kuzma, Amanda B.
    Leung, Yuk Yee
    Farrell, John J.
    Lin, Honghuang
    Kunkle, Brian W.
    Naj, Adam
    Blue, Elizabeth E.
    Nusetor, Frederick
    Wang, Dongyu
    Boerwinkle, Eric
    Bush, William S.
    Zhang, Xiaoling
    De Jager, Philip L.
    Dupuis, Josee
    Farrer, Lindsay A.
    Fornage, Myriam
    Martin, Eden
    Pericak-Vance, Margaret
    Seshadri, Sudha
    Wijsman, Ellen M.
    Wang, Li-San
    Schellenberg, Gerard D.
    Destefano, Anita L.
    Haines, Jonathan L.
    Peloso, Gina M.
    ALZHEIMERS & DEMENTIA, 2024, : 8470 - 8483
  • [45] Evaluation of whole-genome sequencing for outbreak detection of Verotoxigenic Escherichia coli O157:H7 from the Canadian perspective
    Rumore, Jillian
    Tschetter, Lorelee
    Kearney, Ashley
    Kandar, Rima
    McCormick, Rachel
    Walker, Matthew
    Peterson, Christy-Lynn
    Reimer, Aleisha
    Nadon, Celine
    BMC GENOMICS, 2018, 19
  • [46] Evaluation of whole-genome sequencing for outbreak detection of Verotoxigenic Escherichia coli O157:H7 from the Canadian perspective
    Jillian Rumore
    Lorelee Tschetter
    Ashley Kearney
    Rima Kandar
    Rachel McCormick
    Matthew Walker
    Christy-Lynn Peterson
    Aleisha Reimer
    Celine Nadon
    BMC Genomics, 19
  • [47] Whole-genome sequencing of Staphylococcus epidermidis bloodstream isolates from a prospective clinical trial reveals that complicated bacteraemia is caused by a limited number of closely related sequence types
    Shelburne, S. A.
    Dib, R. W.
    Endres, B. T.
    Reitzel, R.
    Li, X.
    Kalia, A.
    Sahasrabhojane, P.
    Chaftari, A-M
    Hachem, R.
    Vargas-Cruz, N. S.
    Jiang, Y.
    Garey, K.
    Fowler, V. G.
    Holland, T. L.
    Gu, J.
    Miller, W.
    Sakurai, A.
    Arias, C. A.
    Aitken, S. L.
    Greenberg, D. E.
    Kim, J.
    Flores, A. R.
    Raad, I
    CLINICAL MICROBIOLOGY AND INFECTION, 2020, 26 (05) : 646.e1 - 646.e8
  • [48] Comparative Whole-Genome Sequencing Analysis of In-situ and Invasive Acral Lentiginous Melanoma: Markedly Increased Copy Number Gains of GAB2, PAK1, UCP2, and CCND1 are Associated with Melanoma Invasion
    Park, Hyung Keon
    Choi, Yoo Duk
    Shim, Hyun Jeong
    Choi, Yoonjoo
    Chung, Ik Joo
    Yun, Sook Jung
    AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2024, 48 (09) : 1061 - 1071
  • [49] Next-Generation Sequencing for Whole-Genome Characterization of Weissella cibaria UTNGt21O Strain Originated From Wild Solanum quitoense Lam. Fruits: An Atlas of Metabolites With Biotechnological Significance
    Tenea, Gabriela N.
    Hurtado, Pamela
    FRONTIERS IN MICROBIOLOGY, 2021, 12
12345