"Somatic" and "pathogenic" - is the classification strategy applicable in times of large-scale sequencing?

被引:9
|
作者
Baer, Constance [1 ]
Walter, Wencke [1 ]
Hutter, Stephan [1 ]
Twardziok, Sven [1 ]
Meggendorfer, Manja [1 ]
Kern, Wolfgang [1 ]
Haferlach, Torsten [1 ]
Haferlach, Claudia [1 ]
机构
[1] MLL Munich Leukemia Lab, Munich, Germany
关键词
JOINT-CONSENSUS-RECOMMENDATION; MYELOID NEOPLASMS; VARIANTS; GUIDELINES; MUTATIONS; GENETICS; DATABASE; CONSEQUENCES; ASSOCIATION; RECIPIENTS;
D O I
10.3324/haematol.2019.218917
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:1515 / 1520
页数:6
相关论文
共 50 条
  • [41] VarioWatch: providing large-scale and comprehensive annotations on human genomic variants in the next generation sequencing era
    Cheng, Yu-Chang
    Hsiao, Fang-Chih
    Yeh, Erh-Chan
    Lin, Wan-Jia
    Tang, Cheng-Yang Louis
    Tseng, Huan-Chin
    Wu, Hsing-Tsung
    Liu, Chuan-Kun
    Chen, Chih-Cheng
    Chen, Yuan-Tsong
    Yao, Adam
    NUCLEIC ACIDS RESEARCH, 2012, 40 (W1) : W76 - W81
  • [42] Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies
    Schueler, Markus
    Halbritter, Jan
    Phelps, Ian G.
    Braun, Daniela A.
    Otto, Edgar A.
    Porath, Jonathan D.
    Gee, Heon Yung
    Shendure, Jay
    O'Roak, Brian J.
    Lawson, Jennifer A.
    Nabhan, Marwa M.
    Soliman, Neveen A.
    Doherty, Dan
    Hildebrandt, Friedhelm
    JOURNAL OF MEDICAL GENETICS, 2016, 53 (03) : 208 - 214
  • [43] Large-scale whole-exome sequencing of neuropsychiatric diseases and traits in 350,770 adults
    Deng, Yue-Ting
    Wu, Bang-Sheng
    Yang, Liu
    He, Xiao-Yu
    Kang, Ju-Jiao
    Liu, Wei-Shi
    Li, Ze-Yu
    Wu, Xin-Rui
    Zhang, Ya-Ru
    Chen, Shi-Dong
    Ge, Yi-Jun
    Huang, Yu-Yuan
    Feng, Jian-Feng
    Zhu, Ying
    Dong, Qiang
    Mao, Ying
    Cheng, Wei
    Yu, Jin-Tai
    NATURE HUMAN BEHAVIOUR, 2024, 8 (06) : 1194 - 1208
  • [44] Robust and rapid algorithms facilitate large-scale whole genome sequencing downstream analysis in an integrative framework
    Li, Miaoxin
    Li, Jiang
    Li, Mulin Jun
    Pan, Zhicheng
    Hsu, Jacob Shujui
    Liu, Dajiang J.
    Zhan, Xiaowei
    Wang, Junwen
    Song, Youqiang
    Sham, Pak Chung
    NUCLEIC ACIDS RESEARCH, 2017, 45 (09)
  • [45] Application of large-scale targeted sequencing to distinguish multiple lung primary tumors from intrapulmonary metastases
    Duan, Jiaxin
    Ge, Mingjian
    Peng, Jian
    Zhang, Yangli
    Yang, Li
    Wang, Ting
    Qin, Tian
    Yuan, Rui
    Zhang, Yuhong
    Cheng, Wei
    SCIENTIFIC REPORTS, 2020, 10 (01)
  • [46] Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing
    Jansen, Iris E.
    Ye, Hui
    Heetveld, Sasja
    Lechler, Marie C.
    Michels, Helen
    Seinstra, Renee I.
    Lubbe, Steven J.
    Drouet, Valerie
    Lesage, Suzanne
    Majounie, Elisa
    Gibbs, J. Raphael
    Nalls, Mike A.
    Ryten, Mina
    Botia, Juan A.
    Vandrovcova, Jana
    Simon-Sanchez, Javier
    Castillo-Lizardo, Melissa
    Rizzu, Patrizia
    Blauwendraat, Cornelis
    Chouhan, Amit K.
    Li, Yarong
    Yogi, Puja
    Amin, Najaf
    van Duijn, Cornelia M.
    Morris, Huw R.
    Brice, Alexis
    Singleton, Andrew B.
    David, Della C.
    Nollen, Ellen A.
    Jain, Shushant
    Shulman, Joshua M.
    Heutink, Peter
    GENOME BIOLOGY, 2017, 18
  • [47] Large-scale whole genome sequencing of M-tuberculosis provides insights into transmission in a high prevalence area
    Guerra-Assuncao, J. A.
    Crampin, A. C.
    Houben, R. M. G. J.
    Mzembe, T.
    Mallard, K.
    Coll, F.
    Khan, P.
    Banda, L.
    Chiwaya, A.
    Pereira, R. P. A.
    McNerney, R.
    Fine, P. E. M.
    Parkhill, J.
    Clark, T. G.
    Glynn, J. R.
    ELIFE, 2015, 4
  • [48] Large-scale whole exome sequencing studies identify two genes,CTSL and APOE, associated with lung cancer
    Xu, Jingxiong
    Xu, Wei
    Choi, Jiyeon
    Brhane, Yonathan
    Christiani, David C.
    Kothari, Jui
    Mckay, James
    Field, John K.
    Davies, Michael P. A.
    Liu, Geoffrey
    Amos, Christopher I.
    Hung, Rayjean J.
    Briollais, Laurent
    PLOS GENETICS, 2023, 19 (09):
  • [49] Large-scale Sequencing of Testicular Germ Cell Tumour (TGCT) Cases Excludes Major TGCT Predisposition Gene
    Litchfield, Kevin
    Loveday, Chey
    Levy, Max
    Dudakia, Darshna
    Rapley, Elizabeth
    Nsengimana, Jeremie
    Bishop, D. Tim
    Reid, Alison
    Huddart, Robert
    Broderick, Peter
    Houlston, Richard S.
    Turnbull, Clare
    EUROPEAN UROLOGY, 2018, 73 (06) : 828 - 831
  • [50] Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
    Monies, Dorota
    Abouelhoda, Mohammed
    Assoum, Mirna
    Moghrabi, Nabil
    Rafiullah, Rafiullah
    Almontashiri, Naif
    Alowain, Mohammed
    Alzaidan, Hamad
    Alsayed, Moeen
    Subhani, Shazia
    Cupler, Edward
    Faden, Maha
    Alhashem, Amal
    Qari, Alya
    Chedrawi, Aziza
    Aldhalaan, Hisham
    Kurdi, Wesam
    Khan, Sameena
    Rahbeeni, Zuhair
    Alotaibi, Maha
    Goljan, Ewa
    Elbardisy, Hadeel
    ElKalioby, Mohamed
    Shah, Zeeshan
    Alruwaili, Hibah
    Jaafar, Amal
    Albar, Ranad
    Akilan, Asma
    Tayeb, Hamsa
    Tahir, Asma
    Fawzy, Mohammed
    Nasr, Mohammed
    Makki, Shaza
    Alfaifi, Abdullah
    Akleh, Hanna
    Yamani, Suad
    Bubshait, Dalal
    Mahnashi, Mohammed
    Basha, Talal
    Alsagheir, Afaf
    Abu Khaled, Musad
    Alsaleem, Khalid
    Almugbel, Maisoon
    Badawi, Manal
    Bashiri, Fahad
    Bohlega, Saeed
    Sulaiman, Raashida
    Tous, Ehab
    Ahmed, Syed
    Algoufi, Talal
    AMERICAN JOURNAL OF HUMAN GENETICS, 2019, 104 (06) : 1182 - 1201