Results 101 to 110 of about 125,953 (296)

Editorial: The Post-Exome Era [PDF]

Iranian Rehabilitation Journal, 2016
The Iranian Rehabilitation Journal (IRJ) invites research papers on the genetic basis of single gene and complex disorders. This vastly dynamic branch of science will complement the multidisciplinary wealth of expertise in the fields of social welfare and rehabilitation.
openaire   +3 more sources

Case Report: Concurrent de novo pathogenic variants in the LMNA gene as a cause of sporadic partial lipodystrophy

Frontiers in Genetics
IntroductionInherited lipodystrophies are a group of rare diseases defined by severe reduction in adipose tissue mass and classified as generalized or partial.
José L. Santos, José L. Santos, José Patricio Miranda, José Patricio Miranda, Carlos F. Lagos, Carlos F. Lagos, Víctor A. Cortés   +6 more
doaj   +1 more source

Exome-Wide Meta-Analysis Identifies Rare 3′-UTR Variant in ERCC1/CD3EAP Associated with Symptoms of Sleep Apnea

Frontiers in Genetics, 2017
Obstructive sleep apnea (OSA) is a common sleep breathing disorder associated with an increased risk of cardiovascular and cerebrovascular diseases and mortality.
Ashley van der Spek, Annemarie I. Luik, Desana Kocevska, Chunyu Liu, Chunyu Liu, Chunyu Liu, Rutger W. W. Brouwer, Jeroen G. J. van Rooij, Jeroen G. J. van Rooij, Jeroen G. J. van Rooij, Mirjam C. G. N. van den Hout, Robert Kraaij, Robert Kraaij, Robert Kraaij, Albert Hofman, Albert Hofman, André G. Uitterlinden, André G. Uitterlinden, André G. Uitterlinden, Wilfred F. J. van IJcken, Daniel J. Gottlieb, Daniel J. Gottlieb, Daniel J. Gottlieb, Henning Tiemeier, Henning Tiemeier, Cornelia M. van Duijn, Najaf Amin   +26 more
doaj   +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

Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting

Frontiers in Genetics
IntroductionA trio analysis refers to the strategy of exome or genome sequencing of DNA from a patient, as well as parents, in order to identify the genetic cause of a disorder or syndrome.MethodsDuring the last 10 years, we have successfully applied ...
Helena Malmgren, Helena Malmgren, Malin Kvarnung, Malin Kvarnung, Peter Gustafsson, Peter Gustafsson, Britt-Marie Anderlid, Britt-Marie Anderlid, Cecilia Arthur, Cecilia Arthur, Jonas Carlsten, Jonas Carlsten, Karl De Geer, Karl De Geer, Emma Ehn, Emma Ehn, Giedre Grigelioniené, Giedre Grigelioniené, Anna Hammarsjö, Anna Hammarsjö, Hafdis T. Helgadottir, Hafdis T. Helgadottir, Maritta Hellström-Pigg, Maritta Hellström-Pigg, Erik Iwarsson, Erik Iwarsson, Ekaterina Kuchinskaya, Ekaterina Kuchinskaya, Hillevi Lindelöf, Hillevi Lindelöf, Maria Mannila, Maria Mannila, Daniel Nilsson, Daniel Nilsson, Maria Pettersson, Maria Pettersson, Eva Rudd, Eva Rudd, Ellika Sahlin, Ellika Sahlin, Bianca Tesi, Bianca Tesi, Emma Tham, Emma Tham, Håkan Thonberg, Håkan Thonberg, Eini Westenius, Eini Westenius, Johanna Winberg, Johanna Winberg, Max Winerdal, Max Winerdal, Magnus Nordenskjöld, Magnus Nordenskjöld, Maria Johansson-Soller, Maria Johansson-Soller, Valtteri Wirta, Valtteri Wirta, Ann Nordgren, Ann Nordgren, Anna Lindstrand, Anna Lindstrand, Kristina Lagerstedt-Robinson, Kristina Lagerstedt-Robinson   +63 more
doaj   +1 more source

Role of Segregation for Variant Discovery in Multiplex Families Ascertained by Probands With Left Sided Cardiovascular Malformations

Frontiers in Genetics, 2019
Cardiovascular malformations (CVM) are common birth defects (incidence of 2–5/100 live births). Although a genetic basis is established, in most cases the cause remains unknown.
Lisa J. Martin, Lisa J. Martin, Valentina Pilipenko, D. Woodrow Benson   +3 more
doaj   +1 more source

Incorporating predicted functions of nonsynonymous variants into gene-based analysis of exome sequencing data: a comparative study [PDF]

, 2011
Peng Wei, Xiaoming Liu, Yun-Xin Fu
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

Application of collapsing methods for continuous traits to the Genetic Analysis Workshop 17 exome sequence data [PDF]

, 2011
Yun Ju Sung, Treva Rice, D. C. Rao
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