Validating models of imputing germline versus somatic status for variants detected by tumor-only genomic profiling using germline clinical testing data

被引:0
|
作者
Gomy, Israel [1 ]
Jalloul, Nahed [2 ]
Stokes, Samantha [1 ]
Gusev, Alexander [1 ]
Ganesan, Shridar [2 ]
Garber, Judy [1 ]
Khiabanian, Hossein [2 ]
机构
[1] Dana Farber Canc Inst, Boston, MA 02115 USA
[2] Rutgers Canc Inst, New Brunswick, NJ USA
关键词
D O I
10.1158/1538-7445.AM2020-LB-245
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
LB-245
引用
收藏
页数:2
相关论文
共 23 条
  • [21] Identification of potential germline (GL) variants by routine clinical comprehensive genomic profiling (CGP) and confirmatory GL testing in 24 tumor types.
    Hanson, Kristen
    Mullane, Michael
    Schnettler, Erica
    Pavlick, Dean C.
    Frampton, Garrett M.
    Cooper, Maureen
    Wham, Deborah
    Thompson, Michael A.
    Godden, Jennifer
    Walters, Mary
    Venstrom, Jeffrey Michael
    McGregor, Kimberly
    JOURNAL OF CLINICAL ONCOLOGY, 2021, 39 (15)
  • [22] Utility of Deep Learning for Germline vs Somatic Classification in Tumor-only Panels using Variant Allele Frequencies and gnomAD Population Maximum Allele Frequency
    Sohn, Andrew
    Anaya, Jordan
    Baras, Alexander
    LABORATORY INVESTIGATION, 2023, 103 (03) : S1319 - S1319
  • [23] Improved Classification of Germline PAX5 Variants Using Tumor Sequencing Data and Global Gene Expression Profiling
    Maciaszek, J.
    Pastor, V.
    Neary, J.
    Furtado, L.
    Inaba, H.
    Klco, J.
    Wang, L.
    Blackburn, P.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2023, 25 (11): : S2 - S2