Search Results - Azza Althagafi
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The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients by Şenay Kafkas, Marwa Abdelhakim, Azza Althagafi, Sumyyah Toonsi, Malak Alghamdi, Paul N. Schofield, Robert Hoehndorf
Published in Scientific Reports (2025-04-01)Get full text
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Deep Learning-Based Mpox Skin Lesion Detection and Real-Time Monitoring in a Smart Healthcare System by Huda Alghoraibi, Nuha Alqurashi, Sarah Alotaibi, Renad Alkhudaydi, Bdoor Aldajani, Joud Batawil, Lubna Alqurashi, Azza Althagafi, Maha A. Thafar
Published in Diagnostics (2025-10-01)Get full text
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A reference quality, fully annotated diploid genome from a Saudi individual by 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
Published in Scientific Data (2024-11-01)Get full text
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What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations by Ahmed Alfares, Lamia Alsubaie, Taghrid Aloraini, Aljoharah Alaskar, Azza Althagafi, Ahmed Alahmad, Mamoon Rashid, Abdulrahman Alswaid, Ali Alothaim, Wafaa Eyaid, Faroug Ababneh, Mohammed Albalwi, Raniah Alotaibi, Mashael Almutairi, Nouf Altharawi, Alhanouf Alsamer, Marwa Abdelhakim, Senay Kafkas, Katsuhiko Mineta, Nicole Cheung, Abdallah Abdallah, Stine Büchmann-Møller, Yoshinori Fukasawa, Xiang Zhao, Issaac Rajan, Robert Hoehndorf, Fuad Al Mutairi, Takashi Gojobori, Majid Alfadhel
Published in BMC Medical Genomics (2020-07-01)Get full text
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Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project by 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
Published in Human Genomics (2024-04-01)Get full text
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