PO.PS01.08 · 人群科学
Genetic Epidemiology 2: Pathway Analysis, Sequencing, Functional Genetics / Family and Hereditary Studies
- 6272 6272 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 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 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 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
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- 6280 6280 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
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- 6284 6284 Putative pathogenic germline variants associated with hereditary cancer syndromes identified through clinical tumor-only sequencing Sheehyun Kim, Suhyun Hwangbo, Sungyoung Lee, Hongseok Yun
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- 6286 6286 Functional assessment of RECQL4 missense variants identified in RECQL4 genetic disorder-associated osteosarcomas Brian Rodemoyer, Samuel Brito, Thales C. Nepomuceno, Alvaro N. Monteiro
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- 6288 6288 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 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
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- 6292 6292 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 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
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