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Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations

机译：罕见的肿瘤正常匹配的全外膜测序识别新型基因组致病种和体细胞畸变

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Ryan Sprissler; Bryce Perkins; Laurel Johnstone; Hani M. Babiker; Pavani Chalasani; Branden Lau; Michael Hammer; Daruka Mahadevan;
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1. OA 18.01 Paired Tumor-Normal Next-Generation Sequencing (NGS) to Identify Pathogenic / Likely Pathogenic Germline Mutations in Lung Cancer Patients [J] . Y. Yi, R. Chen, P. Dai, Journal of thoracic oncology: official publication of the International Association for the Study of Lung Cancer . 2017,第11期

机译：OA 18.01成对肿瘤正常的下一代测序（NGS），以鉴定肺癌患者的病原/可能的致病种类突变
2. Molecular portrait of a rare case of metastatic glioblastoma: somatic and germline mutations using whole-exome sequencing [J] . Franceschi Sara, Lessi Francesca, Aretini Paolo, Neuro-Oncology . 2016,第2期

机译：罕见的转移性胶质母细胞瘤病例的分子画像：使用全外显子组测序进行体细胞和种系突变
3. Whole exome sequencing in high-risk chronic lymphocytic leukemia families: do rare germline variants in somatically altered genes or GWAS genes contribute to susceptibility? [J] . Goldin Lynn R., Rotunno Melissa, McMaster Mary L., Genetic epidemiology. . 2015,第7期

机译：高危慢性淋巴细胞性白血病家族中的全外显子组测序：体细胞改变的基因或GWAS基因中罕见的种系变异是否易感？
4. A Bioinformatics Procedure to Identify and Annotate Somatic Mutations in Whole-Exome Sequencing Data [C] . Roberta Spinelli, Rocco Piazza, Alessandra Pirola, International meeting on computational intelligence methods for bioinformatics and biostatistics . 2012

机译：在整个外显子组测序数据中识别和注释体细胞突变的生物信息学程序
5. Analysis of somatic mutations identified by whole-exome sequencing in colorectal cancer metastasis [D] . Zhao, Bixiao 2016

机译：通过全外显子测序鉴定的大肠癌转移中的体细胞突变分析
6. Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations [O] . Ryan Sprissler, Bryce Perkins, Laurel Johnstone, 2020

机译：罕见的肿瘤-正常匹配的全外显子组测序可鉴定新型基因组病原生殖和体细胞畸变
7. 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

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations

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