PO.PS01.08 · 人群科学
Genetic Epidemiology 2: Pathway Analysis, Sequencing, Functional Genetics / Family and Hereditary Studies
- 6272 6272 通过多数据库和系统化变异分类增强变异解读：减少临床基因组学中的不确定性 Enhancing variant interpretation through multi-database and systematic variant classification: Reducing uncertainty in clinical genomics Bharat Sinha Bhosale, Sandhya Iyer, Mina Darooei, Madhura Basavalingegowda, Anay walunjkar, Mohan Uttarwar, Kanchan Hariramani, Aarthi Ramesh, Gowhar Shafi
- 6273 6273 疑似Li-Fraumeni综合征的阿尔及利亚患者的临床病理和遗传学特征：对遗传筛查和检测的意义 Clinicopathological and genetic features of Algerian patients with suspected Li-Fraumeni Syndrome: Implications in genetic screening and testing Farid Cherbal, Chiraz Mehemmai, Djamel-Eddine Seddik, Mouchira Saidi, Mohammed Oukkal, Fatiha Gachi
- 6275 6275 对系谱、流行病学和分子数据的多维度分析为肌痛性脑脊髓炎/慢性疲劳综合征提供病因学线索 Multidimensional analyses of pedigree, epidemiologic, and molecular data provide etiologic clues for myalgic encephalomyelitis/chronic fatigue syndrome Roxana Moslehi, Anil Kumar, Amiran Dzutsev
- 6276 6276 遗传性乳腺癌和卵巢癌综合征及Lynch综合征个体在一个封闭式社会支持网络上参与度的预测因子 Predictors of engagement on a closed social support network for individuals with Hereditary Breast and Ovarian Cancer syndrome and Lynch syndrome Patrick Boyd, Yi Xiao, Sandra Davey, Jenna R. Hoopes, Cassiel Suarez, Justin Martinez, Alex Capasso, Kathryn Reyes, Ilana Solomon, Stacy W. Gray
-
-
-
- 6280 6280 利用RNA和长读长DNA改善癌症风险升高个体的遗传病因识别：Li-Fraumeni样表型个体的一项试点研究 Leveraging RNA and long-read DNA to improve genetic etiology identification in individuals with elevated cancer risk: A pilot study in individuals with Li-Fraumeni-like phenotype Yewon Kim, Anvith Kakkera, Asher Bryant, Sharon A. Savage, Michael C. Dean, Payal Khincha, Misha Kolmogorov, Sheila Rajagopal
-
-
- 6284 6284 通过临床仅肿瘤测序鉴定的与遗传性癌症综合征相关的可疑致病性种系变异 Putative pathogenic germline variants associated with hereditary cancer syndromes identified through clinical tumor-only sequencing Sheehyun Kim, Suhyun Hwangbo, Sungyoung Lee, Hongseok Yun
-
- 6286 6286 在 RECQL4 遗传性疾病相关骨肉瘤中鉴定的 RECQL4 错义变异的功能评估 Functional assessment of RECQL4 missense variants identified in RECQL4 genetic disorder-associated osteosarcomas Brian Rodemoyer, Samuel Brito, Thales C. Nepomuceno, Alvaro N. Monteiro
-
- 6288 6288 将肿瘤与专利到期的靶向治疗（TT）进行合理配对：面向弱势患者的具有全球应用价值的下一代（第3代）测序！ Rational pairing of tumors with off-patent targeted therapies (TT): Next 3 generation sequencing with global applications for the unprivileged patients! Farah Mazahreh, Liyan Mazahreh, Ahmad Mazin Safar
- 6289 6289 对常见癌症易感基因的靶向测序揭示非洲前列腺癌患者中的种系变异 Targeted sequencing of common cancer susceptibility genes reveals germline variants in African prostate cancer patients Abimbola F. Onyia, Freeman Okwuchi, Opeyemi C. De Campos, Sylvester Divine, Olutola Olasehinde, Ayinde Yahaya, Ayo Salako, Aminu Zakari, Iya Bassey, Nicholas Titiloye, Bernard Petershie, Isidore GANDAHO, Luc Brun, Tore Sanni, Safiatou Coulibaly, Noel Coulibaly, Michael Fakayode, Coulibaly Issoufou, Valérie Gbonon, Kouame Benjamin, Yao Evrard, Peter Coleman, Ayun Cassell, Victor Ajumbo, Lilac Wattanga, Benson Ochieng Nyambega, Folakemi T. Odedina, Solomon Rotimi
-
-
- 6292 6292 全基因组综合分析揭示黏液样脂肪肉瘤中协同的PI3K-TP53-RB1-ATRX通路改变及免疫调节驱动因素 Comprehensive whole-Genome profiling reveals Cooperative PI3K-TP53-RB1-ATRX pathway alterations and immune-modulatory drivers in myxoid liposarcoma Jonathan Gonzalez, Hayde Caro-Sánchez, Dorian Y. García-Ortega, Andrea Ramírez, Rodrigo Cruz-Nieto, Claudia García-Cuellar, Diddier Prada
- 6293 6293 区分切尔诺贝利核电站事故后辐射诱发的甲状腺癌与散发性甲状腺癌 Distinguishing radiation-induced from sporadic thyroid cancers after the Chornobyl nuclear power plant accident Danielle M. Karyadi, Tetiana I. Bogdanova, Stephen W. Hartley, Vladimir Drozdovitch, Sergii Masiuk, Belynda Hicks, Kristine Jones, Amy Hutchinson, Petra Lenz, Maria Brown, Aaron M. Rozeboom, Elizabeth K. Cahoon, Mykola Chepurny, Liudmyla Yu Zurnadzhy, Vibha Vij, Cari M. Kitahara, Michael Dean, Gayle E. Woloschak, Dale A. Ramsden, Mykola D. Tronko, Stephen J. Chanock, Lindsay M. Morton
-
-
-
