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 作者：Ramita Dewan , Alexander Pemov , Amalia S. Dutra ... 来源：[J].BMC Cancer(IF 3.333), 2017, Vol.17 (1)Springer 摘要：... Currently, the somatic mutation landscape in NF2-associated meningiomas remains largely unexamined.
 作者：Ramswaroop Saini , Amit Kumar Singh , Shanmuhapreya Dhanapal ... 来源：[J].BMC Plant Biology(IF 4.354), 2017, Vol.17 (1)Springer 摘要：Plants exposed to environmental stresses draw upon many genetic and epigenetic strategies, with the former sometimes modulated by the latter. This can help the plant, and its immediate progeny, at least, to better endure the stress. Some evidence has led to proposals that (epi) g...
 作者：Xin Xu , Lei Song , Yao Zhao ... 来源：[J].Journal of Genetics(IF 0.876), 2019, Vol.98 (2), pp.1-4Springer 摘要：... Here we show that there exists an acute myeloid leukaemia associated noncoding somatic mutation at 3 $$^\prime$$ ′ terminal of conserved HOXA cluster. The mutation was identified in the bone marrow blasts but not peripheral blood mononuclear cells or buccal cells...
 作者：Zhan Zhou , Shanshan Wu , Jun Lai ... 来源：[J].BMC Medical Genomics(IF 3.466), 2017, Vol.10 (1)Springer 摘要：Intratumor heterogeneity (ITH) poses an urgent challenge for cancer precision medicine because it can cause drug resistance against cancer target therapy and immunotherapy. The search for trunk mutations that are present in all cancer cells is therefore critical for each patient.
 作者：Seirana Hashemi , Abbas Nowzari Dalini , Adrin Jalali ... 来源：[J].BMC Bioinformatics(IF 3.024), 2017, Vol.18 (1)Springer 摘要：Discriminating driver mutations from the ones that play no role in cancer is a severe bottleneck in elucidating molecular mechanisms underlying cancer development. Since protein domains are representatives of functional regions within proteins, mutations on them may disturb the p...
 作者：Seong Gu Heo , Youngil Koh , Jong Kwang Kim ... 来源：[J].BMC Medical Genetics(IF 2.536), 2017, Vol.18 (1)Springer 摘要：Acute myeloid leukemia (AML) is a biologically and clinically heterogeneous cancer of the bone marrow that is characterized by the rapid growth of abnormal myeloid cells.
 作者：O. Pipek , D. Ribli , J. Molnár ... 来源：[J].BMC Bioinformatics(IF 3.024), 2017, Vol.18 (1)Springer 摘要：... However, most of the routinely used mutation calling algorithms are not optimised for the simultaneous analysis of multiple samples, or for non-human experimental model systems with no reliable databases of common genetic variations. Most standard tools either require numerou...
 作者：Rebecca F. Halperin , John D. Carpten , Zarko Manojlovic ... 来源：[J].BMC Medical Genomics(IF 3.466), 2017, Vol.10 (1)Springer 摘要：... However, matched germline samples are frequently not available such as with archival tissues, which makes it difficult to distinguish somatic from germline variants. While population databases may be used to filter out known germline variants, recent studies have shown privat...
 作者：Bo-Young Kim , Mi-Hyun Park , Hae-Mi Woo ... 来源：[J].BMC Medical Genetics(IF 2.536), 2017, Vol.18 (1)Springer 摘要：... A heterozygous germline inactivating mutation in the MEN 1 gene (first hit) may be followed by somatic loss of the remaining normal copy or somatic mutations in the MEN1 gene (second hit). Whole-exome sequencing has been successfully used to elucidate the mutations associated...
 作者：Xinan Holly Yang , Fangming Tang , Jisu Shin ... 来源：[J].BMC Systems Biology(IF 2.982), 2017, Vol.11 (5)Springer 摘要：Previous studies suggested that cancer cells possess traits reminiscent of the biological mechanisms ascribed to normal embryonic stem cells (ESCs) regulated by MYC and Polycomb repressive complex 2 (PRC2). Several poorly differentiated adult tumors showed preferentially high exp...