Genomic Profiling to Understand Cancer Biology

• 3236 · PDF 土耳其队列中膀胱癌的基因组图谱:揭示独特的突变谱及临床见解 Genomic landscape of bladder cancer in a turkish cohort: Unveiling the unique mutational spectrum with clinical insights Burcu Yucel, Fatma Zehra Sarı, Dine Guner Mercan, Hüseyin Özgür Kazan, Ceren Sumer, Melike Akman, Demet Akdeniz Ödemiş, Mehmet Baysan, Asıf Yıldırım, Mahmut Gümüş
• 3237 · PDF 一种用于定义HPV相关头颈癌中病毒和宿主基因组异质性的多模态测序框架 A multimodal sequencing framework to define viral and host genomic heterogeneity in HPV associated head and neck cancer Ella P. Jackert, Shu-Yun Cheng, Swar Vimawala, Liyang Tang, Daniel Kwon, Niels C. Kokot, Uttam Sinha, Albert Y. Han
• 3238 · PDF 高分子量DNA的完整性对于准确的长读长测序和全面的癌症基因组学至关重要 Integrity of high-molecular-weight DNA is essential for accurate long-read sequencing and comprehensive cancer genomics Susan M. Magdaleno, Juili Kelvekar, Monica K. Campbell, Alexis Tapanes-Castillo, Hannah E. Saunders
• 3239 · PDF 采用纳米孔自适应采样进行单一检测、仅肿瘤样本的体细胞SNV、SV与CNV分析 Single assay, tumor-only, somatic SNVs, SVs, and CNVs profiling using nanopore adaptive sampling Sergey Aganezov, Philipp Rescheneder, Rory Sinnott, Sissel Juul
• 3241 · PDF 来自低起始量FFPE样本的高保真全基因组测序：通过卓越的变异检测和均一覆盖实现精准的肿瘤指导型MRD检测设计 High-fidelity whole genome sequencing from low-input FFPE samples: Enabling accurate tumor-informed MRD assay design through superior variant detection and uniform coverage Vanessa Process, Sushant Khanal, Madan Ambavaram, Sameer Vasantgadkar, Luca Beker, Alaina Villarreal, Jose Gil, Andrew Laneville, Martina Werner, Greg Endress, Ulrich Thomann, Eugenio Daviso
• 3242 · PDF 使用SureSelect Cancer Pan Heme检测对血液系统恶性肿瘤进行整合式长读段靶标富集和全面基因组分析 Integrated long-read target enrichment and comprehensive genomic profiling for hematologic malignancies using the SureSelect Cancer Pan Heme assay Brandyn Clark, Adam Janssen, Jeff Fox, Nedda Saremi, Kristi Stephenson, Kelle Hammock, Bahram Arezi
• 3243 · PDF 探讨在乳腺癌和结直肠癌中检测可干预改变和循环肿瘤DNA的价值 Investigating the value of testing for actionable alterations and circulating tumor DNA in breast and colorectal cancers Gargi D. Basu, Nick Johnson, Angela Deem, Judith Frederick, Terence Wong, Janine R. LoBello, Szabolcs Szelinger, Nishitha Therala, Mark Evans, Miriam Walker, Jean-Paul De La O
• 3244 · PDF 用于cfDNA的快速、单管、10分钟以内的全基因组文库制备 Rapid, one-tube sub 10-minute whole genome library prep for cfDNA Ben Krajacich, Seana Lymer, Kevin Green, Xiaodong Qi, Kyle Donohoe, June (Junhua) Zhao, Michael Previte
• 3245 · PDF 扩展液体活检生物标志物发现：在NovaSeq X Plus上使用TSO500 v2进行高分辨率ctDNA分析的多中心分析验证 Scaling liquid biopsy biomarker discovery: Multi-center, analytical validation of high resolution ctDNA profiling using TSO500 v2 on NovaSeq X Plus Gabriela Edwards Faret, Emmanuel Rivière, Silvie Franck, Bart Tegenbos, Lisa Van den Bossche, Joke Verbist, Lien Heyrman, Magdalena Lesnicki, Rachel Raz, Brian Chapman, Eric Harness, Jan Van de Velde, Dirk Goossens, Jurgen Del Favero
• 3246 · PDF SeqF™：一种用于去中心化肿瘤分析的经济型纳米孔检测的评估 SeqF™: evaluation of an affordable nanopore-based assay for decentralized tumor profiling Kimberly A. Holden, Roi Feingersch, Dvir Dahary, Margalit Feiger, Tal Havkin-Solomon, Benjamin M. Cohen, George Way, Shakti Ramkissoon, Marcia Eisenberg, Brian Caveney, Eric Severson, Taylor J. Jensen, Jonathan Williams
• 3247 · PDF 跨越8,000余个TCGA全基因组的结构变异连接处插入的起源 Origins of structural variant junctional insertions across >8,000 TCGA whole genomes Youyun Zheng, Gregory Raskind, Sophie Webster, Narmen Azazmeh, Haruna Tomono, Andrew Cherniack, David Lehotzky, Ron Solan, Antonia Kowalewski, Xavi Loinaz, Hansol Park, Vasuki N. Swamy, David Heiman, Samantha Van Seters, Saveliy Belkin, Sam Wiseman, Chunyang Bao, Luis A. Corchete Sanchez, Zachary Everton, Ryul Kim, Beomki Lee, Won-Chul Lee, Chip Stewart, Gengchao Wang, Brian P. Danysh, Young Seok Ju, Esther Rheinbay, Gad Getz, Rameen Beroukhim
• 3248 · PDF 利用LinkPrep检测法表征多发性骨髓瘤基因组，实现体细胞变异及SV驱动的三维基因组相互作用的检测 Characterization of multiple myeloma genomes with LinkPrep assay enables detection of somatic variation and SV-driven interactions of the 3D genome Lisa Munding, Nathan Becker, Enze Liu, Alexander Fortuna, Jonathan Torchia, Aneta Mikulasova, J. Zachary Sanborn, Brian Walker
• 3249 · PDF 将cfDNA优化的文库制备流程扩展至机械剪切的FFPE DNA，以获得高质量NGS数据 Extending a cfDNA-optimized library preparation workflow to mechanically sheared FFPE DNA for high-quality NGS data Sean Tighe, Owen Smith, Tiffany Truong, Tong Liu, Elian Lee, Esteban Toro, Siyuan Chen
• 3250 · PDF 人类与犬神经鞘肿瘤在形态学、预后、治疗、表观遗传学、转录组学和基因组学方面的比较研究 Comparative study of human and canine nerve sheath tumors in terms of morphology, prognosis, treatment, epigenetics, transcriptomics, and genomics Jace P. Landry, Angela D. Bhalla, Sharon M. Landers, Rossana Lazcano, Lindsay A. Parker, Tasha M. Miller, Noelle Niemi, Heather G. Lyu, Heather A. Lillemoe, Emily Z. Keung, Christopher P. Scally, Christina L. Roland, Kelly K. Hunt, John M. Slopis, Ian E. McCutcheon, Beth Boudreau, Heather Wilson-Robles, Alexander J. Lazar, Kunal Rai, Dominique J. Wiener, Brian W. Davis, Brandan Wustefeld-Janssens, Keila E. Torres
• 3252 · PDF 使用Aspyre Lung进行简化的基因组分析，解决有限且质量不佳组织的实际挑战 Simplified genomic profiling using Aspyre Lung solves real-life challenges with limited and poor-quality tissue Elizabeth Gillon-Zhang, Eleanor Gray, Candace King, Ethan Clark, Cory Kiser, Mary Beth Rossi, Julia Brown, Ryan Evans, Katherine Knudsen, James Schaffernoth, Tatiana Yuen, Magdalena Stolarek-Januszkiewicz, Sophie Hackinger, Amanda Green, Kelly Pitts, Honey V. Reddi, Shari Brown, Barnaby Balmforth
• 3253 · PDF 针对FFPE肿瘤样本的新流程，通过长读长测序实现结构变异检测和体细胞突变分相的精简解决方案 A new workflow for FFPE tumor samples enables a streamlined solution for structural variant detection and phasing of somatic mutations through long read sequencing Camille Conner, Ian McLaughlin, Juniper Lake, Davy Lee, Heather Ferrao, Greg Endress, Ulrich Thomann, Martina Werner, Luca Beker
• 3254 · PDF 利用胆道癌全基因组分析进行基因分析及其与临床因素的关联 Gene profiling using whole genome analysis of bile tract cancer and its association with clinical factors Toshio Kokuryo, Masaki Sunagawa, Junpei Yamaguchi, Taisuke Baba, Takashi Mizuno, Shunsuke Onoe, Nobuyuki Watanabe, Mihoko Yamada, Shoji Kawakatsu, Tomoki Ebata
• 3255 · PDF 基于长读长杂交捕获对95个已知癌症基因进行靶向，通过简单的生物信息学流程和基于AI的临床解读方案检测大型结构变异和复杂变异 Long-read hybrid-capture based targeting of 95 known cancer genes detects large structural and complex variants with a simple bioinformatics workflow and an AI-based clinical interpretation solution. Nathan H. Blewett, Megan Zais, Jingxiao Zhang, Jixin Deng, John DiCarlo, Jamie Hill, Christa Haldrup, Matthew Fosbrink, Jonathan Shaffer
• 3256 · PDF 鉴定与非裔美国女性三阴性乳腺癌体细胞突变特征相关的胚系变异 Identification of germline variants associated with somatic mutational profiles in triple-negative breast cancer among African American women Guochong Jia, Jie Ping, Christine B. Ambrosone, John D. Carpten, Julie R. Palmer, Song Yao, Wei Zheng
• 3257 · PDF 改进的VariantPlex工作流程缩短检测时间并提高对急性髓系白血病靶点的灵敏度 Improved Variantplex workflow reduces assay time and enhances sensitivity for acute myeloid leukemia targets David Knupp, Michael Washburn
• 3258 · PDF 三阴性乳腺癌中的宏转录组学特征 Metatranscriptomic signatures in triple negative breast cancer Roshan Kumar, Golya Shahrokhi, Shafiq Shaikh, Sunday Negedu, Nicole He, Clayton C. Yates, Upender Manne, Akinyemi I. Ojesina
• 3259 · PDF 使用Hi-C测序检测和功能评估FFPE肺肿瘤标本中的染色体外DNA扩增 Detection and functional assessment of extrachromosomal DNA amplifications in FFPE lung tumor specimens using Hi-C sequencing Kristin Sikkink, Blake Skrable, Alex Hastie, Anthony Schmitt
• 3260 · PDF 采用流动池上杂交捕获的多模态综合基因组分析panel的开发 Development of multimodal comprehensive genomic profiling panel with on-flow cell hybrid capture Mariam Ashraf, Michelle Baird, Markus Storbeck, Xiaodong Qi, June (Junhua) Zhao, Helene Bauby, Zhong Wu, Jonathan M. Shaffer
• 3261 · PDF 使用人工构建的多重参考物质评估各种商用提取试剂盒从FFPE中提取的核酸质量与性能 Evaluation of FFPE-extracted nucleic acid quality and performance from various commercial extraction kits using contrived multiplexed reference materials Dana J. Ruminski Lowe, Richard Howard, Serene Roque, Praveena Kamineni, Edward S. Davis, Andrew Anfora, Yves Konigshofer, Catherine Huang, Russell K. Garlick
• 3262 · PDF NGS参考标准品遗传学与表观遗传学内容的表征 Characterization of NGS reference standards for genetic and epigenetic content Jayanthi Ramprakash, Matthew G. Butler, Ojaswee Dahal, Colt W. Nash, Andrew T. Anfora, Yves Konigshofer
• 3263 · PDF 当灵敏度遇上复杂性：使用基于DIN的分析对低浓度基因组DNA及FFPE样本的完整性进行电泳评估 Where sensitivity meets complexity: Electrophoretic assessment of genomic DNA integrity at low concentrations and for FFPE samples using DIN-based analysis Solange Borg, Isabell Priester, Annika Dorn, Tim Butler
• 3264 · PDF 流行病学与新型转录组学在低分化子宫内膜癌中的结合 Epidemiology meets novel transcriptomics in poorly differentiated endometrial carcinomas Thulo Molefi, Motshedisi Sebitloane, Zodwa Dlamini
• 3265 · PDF 针对FFPE样本优化的WGS工作流程：实现用于MRD监测的高置信度变异检测 An optimized WGS workflow for FFPE samples: Enabling high-confidence variant detection for MRD surveillance Bella Pfeiffer, Gabrie l Lipof, Alaina Villareal, Kristopher Amirault, Sameer Vasantgadkar, Madan Ambavaram, Vanessa Process, Sushant Khanal, Martina Werner, Greg Endress, Ulrich Thomann, Eugenio Daviso

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