Canlyniadau Chwilio - Azza Althagafi

Starvar: symptom-based tool for automatic ranking of variants using evidence from literature and genomes gan Șenay Kafkas, Marwa Abdelhakim, Mahmut Uludag, Azza Althagafi, Malak Alghamdi, Robert Hoehndorf

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The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients gan Şenay Kafkas, Marwa Abdelhakim, Azza Althagafi, Sumyyah Toonsi, Malak Alghamdi, Paul N. Schofield, Robert Hoehndorf

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Deep Learning-Based Mpox Skin Lesion Detection and Real-Time Monitoring in a Smart Healthcare System gan Huda Alghoraibi, Nuha Alqurashi, Sarah Alotaibi, Renad Alkhudaydi, Bdoor Aldajani, Joud Batawil, Lubna Alqurashi, Azza Althagafi, Maha A. Thafar

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A reference quality, fully annotated diploid genome from a Saudi individual gan Maxat Kulmanov, Rund Tawfiq, Yang Liu, Hatoon Al Ali, Marwa Abdelhakim, Mohammed Alarawi, Hind Aldakhil, Dana Alhattab, Ebtehal A. Alsolme, Azza Althagafi, Angel Angelov, Salim Bougouffa, Patrick Driguez, Changsook Park, Alexander Putra, Ana M. Reyes-Ramos, Charlotte A. E. Hauser, Ming Sin Cheung, Malak S. Abedalthagafi, Robert Hoehndorf

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Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project gan Sarah L. Stenton, Melanie C. O’Leary, Gabrielle Lemire, Grace E. VanNoy, Stephanie DiTroia, Vijay S. Ganesh, Emily Groopman, Emily O’Heir, Brian Mangilog, Ikeoluwa Osei-Owusu, Lynn S. Pais, Jillian Serrano, Moriel Singer-Berk, Ben Weisburd, Michael W. Wilson, Christina Austin-Tse, Marwa Abdelhakim, Azza Althagafi, Giulia Babbi, Riccardo Bellazzi, Samuele Bovo, Maria Giulia Carta, Rita Casadio, Pieter-Jan Coenen, Federica De Paoli, Matteo Floris, Manavalan Gajapathy, Robert Hoehndorf, Julius O. B. Jacobsen, Thomas Joseph, Akash Kamandula, Panagiotis Katsonis, Cyrielle Kint, Olivier Lichtarge, Ivan Limongelli, Yulan Lu, Paolo Magni, Tarun Karthik Kumar Mamidi, Pier Luigi Martelli, Marta Mulargia, Giovanna Nicora, Keith Nykamp, Vikas Pejaver, Yisu Peng, Thi Hong Cam Pham, Maurizio S. Podda, Aditya Rao, Ettore Rizzo, Vangala G. Saipradeep, Castrense Savojardo, Peter Schols, Yang Shen, Naveen Sivadasan, Damian Smedley, Dorian Soru, Rajgopal Srinivasan, Yuanfei Sun, Uma Sunderam, Wuwei Tan, Naina Tiwari, Xiao Wang, Yaqiong Wang, Amanda Williams, Elizabeth A. Worthey, Rujie Yin, Yuning You, Daniel Zeiberg, Susanna Zucca, Constantina Bakolitsa, Steven E. Brenner, Stephanie M. Fullerton, Predrag Radivojac, Heidi L. Rehm, Anne O’Donnell-Luria

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