Somatic small variant and copy number alteration calling with the Genome Analysis Toolkit

被引：0
|
作者：
Lichtenstein, Lee [1 ]
Smith, Jonn [1 ]
Benjamin, David [1 ]
Chevalier, Aaron [1 ]
Cibulskis, Kristian [1 ]
Lee, Samuel K. [1 ]
Banks, Eric [1 ]
机构：
[1] Broad Inst MIT & Harvard, Cambridge, MA 02142 USA
来源：
CANCER RESEARCH | 2019年 / 79卷 / 13期
关键词：
D O I：
10.1158/1538-7445.AM2019-5108
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
5108
引用
收藏
页数：2
相关论文
共 50 条
  • [31] Reliability of algorithmic somatic copy number alteration detection from targeted capture data
    Rieber, Nora
    Bohnert, Regina
    Ziehm, Ulrike
    Jansen, Gunther
    BIOINFORMATICS, 2017, 33 (18) : 2791 - 2798
  • [32] DEFOR: depth- and frequency-based somatic copy number alteration detector
    Zhang, He
    Zhan, Xiaowei
    Brugarolas, James
    Xie, Yang
    BIOINFORMATICS, 2019, 35 (19) : 3824 - 3825
  • [33] Somatic Copy Number Alteration in Circulating Tumor DNA for Monitoring of Pediatric Patients with Cancer
    Ruas, Juliana Silveira
    Torres Silva, Felipe Luz
    Euzebio, Mayara Ferreira
    Biazon, Tassia Oliveira
    Martin Daiggi, Camila Maia
    Nava, Daniel
    Franco, Mayra Troiani
    Cardinalli, Izilda Aparecida
    Cassone, Alejandro Enzo
    Pereira, Luiz Henrique
    Seidinger, Ana Luiza
    Maschietto, Mariana
    Jotta, Patricia Yoshioka
    BIOMEDICINES, 2023, 11 (04)
  • [34] VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing
    Koboldt, Daniel C.
    Zhang, Qunyuan
    Larson, David E.
    Shen, Dong
    McLellan, Michael D.
    Lin, Ling
    Miller, Christopher A.
    Mardis, Elaine R.
    Ding, Li
    Wilson, Richard K.
    GENOME RESEARCH, 2012, 22 (03) : 568 - 576
  • [35] DECA: scalable XHMM exome copy-number variant calling with ADAM and Apache Spark
    Michael D. Linderman
    Davin Chia
    Forrest Wallace
    Frank A. Nothaft
    BMC Bioinformatics, 20
  • [36] Improving estimates of the breakpoints in genome copy number alteration profiles with confidence masks
    Munoz Minjares, Jorge
    Shmaliy, Yuriy S.
    BIOMEDICAL SIGNAL PROCESSING AND CONTROL, 2017, 31 : 238 - 248
  • [37] DECA: scalable XHMM exome copy-number variant calling with ADAM and Apache Spark
    Linderman, Michael D.
    Chia, Davin
    Wallace, Forrest
    Nothaft, Frank A.
    BMC BIOINFORMATICS, 2019, 20 (01)
  • [38] Genome-Wide Copy Number Alteration Profiles in Various Ovarian Carcinomas
    Mao, T. L.
    Kao, H. L.
    Sheu, J. J.
    Kuo, K. T.
    LABORATORY INVESTIGATION, 2010, 90 : 254A - 254A
  • [39] Genome-Wide Copy Number Alteration Profiles in Various Ovarian Carcinomas
    Mao, T. L.
    Kao, H. L.
    Shen, J. J.
    Kuo, K. T.
    MODERN PATHOLOGY, 2010, 23 : 254A - 254A
  • [40] Combining targeted sequencing and ultra-low-pass whole-genome sequencing for accurate somatic copy number alteration detection
    Junfeng Fu
    Weihua Guo
    Cheng Yan
    Zhenyang Lv
    Yu Wang
    Ze Wang
    Zhe Fan
    Ting Lei
    Functional & Integrative Genomics, 2021, 21 : 161 - 169
12345