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Detection of a Distinctive Genomic Signature in Rhabdoid Glioblastoma, A Rare Disease Entity Identified by Whole Exome Sequencing and Whole Transcriptome Sequencing

机译：通过全外显子组测序和全转录组测序鉴定的罕见疾病实体横纹肌样胶质母细胞瘤中特异性基因组特征的检测

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Youngil Koh; Inho Park; Chung-Hyun Sun; Seungmook Lee; Hongseok Yun; Chul-Kee Park; Sung-Hye Park; Joo Kyung Park; Se-Hoon Lee;
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1. Detection of a Distinctive Genomic Signature in Rhabdoid Glioblastoma, A Rare Disease Entity Identified by Whole Exome Sequencing and Whole Transcriptome Sequencing [J] . Youngil Koh, Inho Park, Chung-Hyun Sun, Translational Oncology . 2015,第4期

机译：通过全外显子组测序和全转录组测序确定的横纹肌胶质母细胞瘤中的独特基因组特征的检测
2. WHOLE EXOME SEQUENCING STUDY IDENTIFIES RARE COPY NUMBER VARIATIONS FOR LATE-ONSET ALZHEIMER’S DISEASE: THE ALZHEIMER’S DISEASE SEQUENCING PROJECT CASE-CONTROL ANALYSIS [J] . Xueqiu Jian, Theodore Chiang, Kim C. Worley, Alzheimer’s & dementia: the journal of the Alzheimer’s Association . 2018,第7期

机译：整体外序测序研究识别罕见的阿尔茨海默病的罕见拷贝数变异：阿尔茨海默病的疾病测序项目案例控制分析
3. Exome sequencing identifies frequent genomic loss of TET1 in IDH-wild-type glioblastoma 1 2 [J] . Sebastian Stasik, Tareq A. Juratli, Andreas Petzold, Neoplasia: an international journal for oncology research . 2020,第12期

机译：Exome测序识别<斜斜体> TET1 在<斜斜体> IDH -WILD型胶质母细胞瘤^{1 2}
4. Establish Reporting Format of Gene Related Rare-Diseases by Exome Sequencing in the Clinical Medical Laboratory [C] . Cheng-Mao Ho, Hsi-Yuan Huang, Chin-An Yang, IEEE International Conference on Bioinformatics and Bioengineering . 2016

机译：在临床医学实验室中通过外显子组测序建立与基因有关的罕见病报告格式
5. Discovery of novel genes that cause rare pediatric renal diseases using whole-exome sequencing [D] . Lemaire, Mathieu. 2015

机译：使用全基因组测序发现导致罕见的小儿肾脏疾病的新基因
6. Detection of a Distinctive Genomic Signature in Rhabdoid Glioblastoma A Rare Disease Entity Identified by Whole Exome Sequencing and Whole Transcriptome Sequencing [O] . Youngil Koh, Inho Park, Chung-Hyun Sun, 2015

机译：通过全外显子组测序和全转录组测序鉴定的横纹肌胶质母细胞瘤中的独特基因组特征的检测
7. Detection of a Distinctive Genomic Signature in Rhabdoid Glioblastoma, A Rare Disease Entity Identified by Whole Exome Sequencing and Whole Transcriptome Sequencing [O] . Koh Youngil, Park Inho, Sun Chung-Hyun, 2015

机译：通过全外显子组测序和全转录组测序鉴定的横纹肌胶质母细胞瘤中的独特基因组特征的检测

Detection of a Distinctive Genomic Signature in Rhabdoid Glioblastoma, A Rare Disease Entity Identified by Whole Exome Sequencing and Whole Transcriptome Sequencing

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