Results 131 to 140 of about 207,257 (328)

Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa [PDF]

, 2011
Stephan Züchner, Julia E. Dallman, Rong Wen, Gary W. Beecham, Adam C. Naj, Amjad Farooq, Martin Kohli, Patrice L. Whitehead, William Hulme, Ioanna Konidari, Yvonne J. K. Edwards, Guiqing Cai, Inga Peter, David Seo, Joseph D. Buxbaum, Jonathan L. Haines, Susan H. Blanton, Juan I. Young, Eduardo C. Alfonso, Jeffery M. Vance, Byron L. Lam, Margaret A Pericak‐Vance   +21 more
openalex   +1 more source

OXidative Stress PREDictor: A Supervised Learning Approach for Annotating Cellular Oxidative Stress States in Inflammatory Cells

Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.
OxSpred, an eXtreme‐Gradient‐Boosting‐‐based supervised learning model, accurately annotates oxidative stress in innate immune cells at the single‐cell level, providing interpretable embeddings with significant biological relevance. This innovative tool revolutionizes the understanding of innate immune cell functions during inflammation and enhances ...
Po‐Yuan Chen, Tai‐Ming Ko
wiley   +1 more source

Exome Sequencing Links Gene Mutation in Angiopoietin-Like Protein 3 With Low-Density Lipoprotein Cholesterol [PDF]

, 2011
Nicole L. Glazer
openalex   +1 more source

Mainstream Artificial Intelligence Technologies in Contemporary Ophthalmology

Advanced Intelligent Systems, EarlyView.
This review explores the latest artificial intelligence (AI) technologies in ophthalmology, focusing on four key data types: medical imaging, electronic health records, robotic‐assisted surgery, and genomics. It examines the structural features, use cases, clinical goals, and evaluation metrics of various AI algorithms, while also introducing emerging ...
Shiqi Yin, Lei Wang, Shanjun Wu, Jiewei Jiang, Wei Qiang, Yangyang Wang, Shihong Wang, Yi Shao, Wei Chen, Zhongwen Li   +9 more
wiley   +1 more source

Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors

Nature Communications, 2017
Identifying the mutational landscape of tumours from cell-free DNA in the blood could help diagnostics in cancer. Here, the authors present ichorCNA, software that quantifies tumour content in cell free DNA, and they demonstrate that cell-free DNA whole ...
Viktor A. Adalsteinsson, Gavin Ha, Samuel S. Freeman, Atish D. Choudhury, Daniel G. Stover, Heather A. Parsons, Gregory Gydush, Sarah C. Reed, Denisse Rotem, Justin Rhoades, Denis Loginov, Dimitri Livitz, Daniel Rosebrock, Ignaty Leshchiner, Jaegil Kim, Chip Stewart, Mara Rosenberg, Joshua M. Francis, Cheng-Zhong Zhang, Ofir Cohen, Coyin Oh, Huiming Ding, Paz Polak, Max Lloyd, Sairah Mahmud, Karla Helvie, Margaret S. Merrill, Rebecca A. Santiago, Edward P. O’Connor, Seong H. Jeong, Rachel Leeson, Rachel M. Barry, Joseph F. Kramkowski, Zhenwei Zhang, Laura Polacek, Jens G. Lohr, Molly Schleicher, Emily Lipscomb, Andrea Saltzman, Nelly M. Oliver, Lori Marini, Adrienne G. Waks, Lauren C. Harshman, Sara M. Tolaney, Eliezer M. Van Allen, Eric P. Winer, Nancy U. Lin, Mari Nakabayashi, Mary-Ellen Taplin, Cory M. Johannessen, Levi A. Garraway, Todd R. Golub, Jesse S. Boehm, Nikhil Wagle, Gad Getz, J. Christopher Love, Matthew Meyerson   +56 more
doaj   +1 more source

Unlocking Mendelian disease using exome sequencing [PDF]

, 2011
Christian Gilissen, Alexander Hoischen, Han G. Brunner, Joris A. Veltman   +3 more
openalex   +1 more source

Mycosis Fungoides, Sézary Syndrome, and Cutaneous B‐Cell Lymphomas: 2025 Update on Diagnosis, Risk‐Stratification, and Management

American Journal of Hematology, EarlyView.
ABSTRACT Disease Overview Primary cutaneous lymphomas are a rare and heterogeneous group of extranodal lymphomas that require the integration of clinical and histopathologic data for classification and treatment. Diagnosis Diagnosis and disease classification is based on histopathologic review and immunohistochemical staining of an appropriate skin ...
Alexandra C. Hristov, Trilokraj Tejasvi, Ryan A. Wilcox   +2 more
wiley   +1 more source

Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing [PDF]

, 2011
Mitchell Stark, Susan L. Woods, Michael G. Gartside, Vanessa Bonazzi, Ken Dutton‐Regester, Lauren G. Aoude, Donald Chow, Chris Sereduk, Natalie M. Niemi, Nanyun Tang, Jonathan J. Ellis, Jeffrey G. Reid, Victoria Zismann, Sonika Tyagi, Donna M. Muzny, Irene Newsham, Yuanqing Wu, Jane M. Palmer, Thomas Pollak, David Youngkin, Bradford Brooks, Catherine Lanagan, Christopher Schmidt, Boštjan Kobe, Jeffrey P. MacKeigan, Hongwei Yin, Kevin M. Brown, Richard A. Gibbs, Jeffrey M. Trent, Nicholas K. Hayward   +29 more
openalex   +1 more source

Integrative Genomic and Transcriptomic Analysis Reveals Targetable Vulnerabilities in Angioimmunoblastic T‐Cell Lymphoma

American Journal of Hematology, EarlyView.
ABSTRACT Nodal follicular helper T‐cell (TFH) lymphoma of the angioimmunoblastic (AITL) subtype has a dismal prognosis. Using whole‐exome sequencing (n = 124), transcriptomic (n = 78), and methylation (n = 40) analysis, we identified recurrent mutations in known epigenetic drivers (TET2, DNMT3A, IDH2R172) and novel ones (TET3, KMT2D).
Alyssa Bouska, Weiwei Zhang, Sunandini Sharma, Harald Holte, Rauf A. Shah, Waseem G. Lone, Mahfuza Afroz Soma, Ruimeng Yang, Xuxiang Liu, Syed Mehmood, Ravneet Singh Chawla, Luca Vincenzo Cappelli, Danilo Fiore, Qiang Gong, Tayla B. Heavican‐Foral, Jeffrey J. Cannatella, Catalina Amador, Aiza Arif, Lynette M. Smith, Soon Thye Lim, Choon Kiat Ong, Andrew L. Feldman, Ming‐Qing Du, Anamarija M. Perry, Laurence de Leval, Timothy C. Greiner, Kai Fu, Gunhild Trøen, Daniel Vodák, Sigve Nakken, Jan Delabie, David Weinstock, Stefano Pileri, Antonella Laginestra, KyeongJin Kim, Utpal Pajvani, Julie M. Vose, Dennis D. Weisenburger, Steven M. Horwitz, Sandeep Dave, Joseph Khoury, Giorgio Inghirami, Wing C. Chan, Javeed Iqbal   +43 more
wiley   +1 more source

Genomic Profiling of Childhood Tumor Patient-Derived Xenograft Models to Enable Rational Clinical Trial Design. [PDF]

, 2019
Accelerating cures for children with cancer remains an immediate challenge as a result of extensive oncogenic heterogeneity between and within histologies, distinct molecular mechanisms evolving between diagnosis and relapsed disease, and limited ...
Baxter, Patricia, Bendak, Katerina, Berko, Esther R, Bowen, Jay, Braun, Frank K, Bryan, Anthony C, Böhm, Julia W, Cardenas, Maria F, Chen, Yidong, Coppens, Sara E, Cross, Katherine L, Diskin, Sharon J, Doddapaneni, HarshaVardhan, Du, Yunchen, Egolf, Laura E, Evans, Kathryn, Farrel, Alvin, Gaonkar, Krutika S, Gastier-Foster, Julie M, Gatto, Gregory J, Gorlick, Richard, Greene, Casey S, Haber, Michelle, Hart, Lori S, Haussler, David, Houghton, Peter J, Jayaseelan, Joy, Kalletla, Karthik, Kendsersky, Nathan M, Kolb, E Anders, Krytska, Kateryna, Kurmashev, Dias, Kurmasheva, Raushan T, Leraas, Kristen M, Li, Xiao-Nan, Lindsay, Holly B, Lock, Richard B, Lopez, Gonzalo, Maris, John M, Marshall, Glenn M, Mayoh, Chelsea, McCalmont, Hannah, McCoy, Kristyn, Modi, Apexa, Momin, Zeineen, Morton, Christopher, Mosse, Yael P, Nance, Jonas, Patel, Khushbu, Pfeil, Jacob, Qi, Lin, Raman, Pichai, Rathi, Komal S, Reynolds, C Patrick, Rokita, Jo Lynne, Sacks, Gregory I, Sanchez, Yolanda, Shu, Jack, Smith, Malcolm A, Tyrrell, Vanessa, Upton, Kristen A, Vaksman, Zalman, Vaske, Olena Morozova, Way, Gregory P, Wheeler, David A, Zhang, Huiyuan, Zhang, Wendong, Zhao, Sibo, Zheng, Siyuan   +68 more
core