PO.BCS01.15 · 生物信息与计算
Sequence Analysis
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1494 · PDF 胰腺导管上皮中KRAS突变获得时机的研究 Study on acquisition timing of KRAS mutations in the pancreatic ductal epithelium Tomonori Hirano, Yasuhide Takeuch, Kazuyuki Nagai, Takayuki Anazawa, Sachiko Minamiguchi, Hiroshi Seno, Seishi Ogawa, Nobuyuki Kakiuchi
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1495 · PDF 一种基于深度学习的新型过滤工具,用于增强全基因组测序数据中技术性假象的检测 A novel, deep learning -based filtering tool for enhanced detection of technical artifacts in whole-genome sequencing data Julian Gascoyne, David Benjamin, Juan Gallegos, Lee T. Lichtenstein, Sachet Shukla
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1496 · PDF 对15个尤因肉瘤细胞系的长读长测序揭示了广泛的GGAA微卫星变异,塑造了EWSR1::FLI1结合图景 Long-read sequencing of 15 Ewing sarcoma cell lines uncovers extensive GGAA microsatellite variation shaping the landscape of EWSR1::FLI1 binding Andrew Song, Xin Li, Egor Dolzhenko, Hélène Neyret Kahn, Kristine Jones, Difei Wang, Komal Jain, Aubrey Hubbard, Olivia Lee, Stephen Chanock, Diptavo Dutta, Olivier Delattre, Mitchell J. Machiela
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1497 · PDF 长读长RNA测序揭示SRSF2突变型慢性粒-单核细胞白血病的新型异构体图谱 Long-read RNA-Seq reveals a novel isoform landscape of SRSF2 -mutant chronic myelomonocytic leukemia Nickolas Steinauer, Terra Lasho, Christy Finke, Pankaj Pradeep, Jenna Fernandez, Alejandro Ferrer, Moritz Binder, Abhishek Mangaonkar, Mrinal M. Patnaik
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1498 · PDF 一种可泛化的超快速序列分析软件框架及其在实现脑癌精准肿瘤学1日深度多组学数据分析周转中的应用 A generalizable software framework for ultra-rapid sequence analysis and its application in enabling 1 day deep multi-omic data analysis turnaround for brain cancer precision oncology Anders Pitman, David Bean, Yi Qiao
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1499 · PDF 基于泛基因组的99例韩国患者早发型和晚发型结直肠癌体细胞突变图谱 Pangenome-based somatic mutation landscape of early- and late-onset colorectal cancer in 99 Korean patients Jae-Yoon Kim, Soobok Joe, Sunwoo Lee, Yeo-Gyeong Yoon, Jongbum Jeon, Jong Hwan Kim, Jin Ok Yang, Seung-Woo Baek, Jong-Lyul Park, Seon-Kyu Kim, Seon-Young Kim
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1500 · PDF 使用基于序列的深度学习模型模拟转移性乳腺癌中碱基对水平的突变率 Modeling base-pair level mutation rate in metastatic breast cancer using a sequence-based deep learning model Ariaki Dandawate, Christina Leslie, Ekta Khurana
- 1501 1501 利用FLAIR3进行长读长RNA测序的癌症基因变异鉴定与功能解读 Cancer gene variant identification and functional interpretation using long-read RNA sequencing with FLAIR3 Colette Felton, Andrea Galvez, Tanvi Damle, Kevin Levine, Mark Diekhans, Eunice Lopez Fuentes, Taylor Won, Christopher Vollmers, Alejandro Sweet-Cordero, Alice Berger, Angela N. Brooks
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1503 · PDF 单细胞多组学分析揭示肝细胞癌免疫治疗耐药背后的细胞类型特异性遗传调控程序 Single-cell multiomics analysis reveals cell type-specific genetic regulatory programs underlying immunotherapy resistance in hepatocellular carcinoma Siyuan Huang, Xiaohang Long, Stephen Lam Chan, Alfred Sze-Lok Cheng
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1504 · PDF 梭杆菌驱动的CRC上皮-基质重塑 Fusobacterium-driven epithelial-stromal remodeling in CRC Sabin Park, Taeyul Kim, Kyung-A Kim, Minsun Jung, Sang Cheol Kim, Han Sang Kim, Semin Lee
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1505 · PDF 胰腺腺癌转录组的长读长测序揭示异常异构体与肿瘤进展 Long-read sequencing of pancreatic adenocarcinoma transcriptome uncovered aberrant isoforms and tumor progression Charny Park, Hyeyeong Hwang, Daejin Hyung, Namhee Yu, Sehwa Hong, Soo Young Cho, Sang Myung Woo
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1506 · PDF 利用体细胞突变与多态性种系变异评估等位基因表达差异 Assessing allelic expression variation using somatic mutations vs. polymorphic germline variants Kohei Hagiwara, Bensheng Ju, Nadezhda V. Terekhanova, John Easton, Jinghui Zhang
- 1507 1507 与健康行为相关的CCL20配体变异导致非小细胞肺癌的差异 Health behavior associated CCL20 ligand variation contributes to the disparity in non-small cell lung cancer Murugesh Eswaran, Briana Alicia Brock, Hina Mir, Sejong Bae, Gabriella M. Oprea-Ilies, Eric L. Flenaugh, Sanjay R. Jain, Brian M. Rivers, Rick A. Kittles, James W. Lillard, Rajesh Singh, Shailesh Singh
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1508 · PDF 标准化儿童体细胞癌症变异分类的大规模资源 A large-scale resource of standardized pediatric somatic cancer variant classifications Alex H. Wagner, Kori Kuzma, Kathleen M. Schieffer, Wesley Goar, Don Corsmeier, Michael McCarrick, Kathryn Perry, Jennifer Bowser, James Stevenson, Mohammad Marhabaie, Matthew Cannon, Liana Hernandez, Doug Depoorter, Hongtao Jia, Amy Everest, Jessica Howard, Swetha Ramadesikan, Vijayakumar Jayaraman, Ying-Chen C. Hou, Mariam T. Mathew, Marco L. Leung, Yassmine M. N. Akkari, Daniel Puthawala, Anastasia Bratulin, Ben Kelly, Elaine R. Mardis, Catherine E. Cottrell
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1509 · PDF 慢性淋巴细胞白血病患者CD8 T细胞的经济型全长转录组揭示BTKi治疗对mRNA加工和基因表达的影响 Cost-effective, full-length transcriptome of chronic lymphocytic leukemia patient cd8 t cells reveals the impact of BTKi treatment on mRNA processing and gene expression Shanmugapriya Thangavadivel, Altan Turkoglu, Lianbo Yu, Rosario Distefano, Alexander Pan, Logan Walker, Tina Wang, Shrilekha Misra, Tzung-Huei Lai, Britten Gordon, Samon Benrashid, Alexander He, Meixiao Long, rosa Lapalombella, John C. Byrd, Kerry A. Rogers, Bradley Blaser, Ralf Bundschuh, Jennifer A. Woyach, Pearlly S. Yan
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1510 · PDF CASTLE:用于改进体细胞变异检出与基准评估标准的癌细胞系长读长测序面板 CASTLE: long-read sequencing panel of cancer cell lines to improve standards of somatic variant calling and benchmarking Mikhail Kolmogorov, Ayse Gokce Kesus, Asher Bryant, Tanveer Ahmad, Byunggil Yoo, Sergey Aganezov, Anton Goretsky, Ataberk Donmez, Lisa Lansdon, Joshua Gardner, Brandy McNulty, Samuel Sacco, Jyoti Shetty, Yongmei Zhao, Bao Tran, Giuseppe Narzisi, Adrienne Hellend, Chengpeng Bi, Adam Walter, Margaret Gibson, Irina Pushel, Erin Guest, Tomi Pastinen, Nicolas Robine, Karen H. Miga, Midhat S. Farooqi, Benedict Paten
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1511 · PDF 利用纵向全基因组测序研究克隆性造血动态 Longitudinal whole genome sequencing to investigate clonal hematopoiesis dynamics Rohini Chebbi, Steven Estus, Elif P. Coskun, David W. Fardo, Gregory A. Jicha, Peter T. Nelson, Erin L. Abner, Yasminka A. Jakubek
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1512 · PDF 通过一种新型数据缩放方法增强对HER2阳性乳腺癌中免疫和致癌信号的检测 Enhanced detection of immune and oncogenic signals in HER2-positive breast cancer by a novel data-scaling method Chole Gunadi, Emily Xue, Amy Lei, Cindy Hu, Qian Wang
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1513 · PDF 整合大体与单细胞RNA测序分析揭示乳腺癌中肥大细胞的基因特征和浸润模式 Gene signatures and infiltration patterns of mast cells in breast cancer revealed by integrated bulk and single-cell RNA sequencing Analyses Eva Liu, Benjamin Jin, Cindy Hu, Qian Wang
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1514 · PDF 绘制癌症DNA甲基化组的可分类性图谱:一种数据学习得出的疾病层级 Mapping classifiability in the cancer DNA methylome: A data-learned disease hierarchy Hao Xu, Jenny Z. Li, Wanding Zhou
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1515 · PDF 去除双联体提升单细胞分辨率并揭示NSCLC中的恶性转录程序 Doublet removal enhances single-cell resolution and uncovers malignant transcriptional programs in NSCLC Benjamin Jin, Eva Liu, Amy Lei, Qian Wang