Results 161 to 170 of about 103,351 (258)

Wekemo Bioincloud 2026: An AI‐enabled platform for standardized multi‐omics data analyses

iMeta, EarlyView.
An AI‐powered multi‐omics cloud platform integrating 41 standardized workflows, 126 visualization tools, and full‐lifecycle research intelligence to enable accessible, reproducible, and end‐to‐end integrative multi‐omics analysis. Abstract The rapid expansion of multi‐omics data has created an increasing demand for accessible and reproducible platforms
Yunyun Gao, Guoxing Zhang, Chengrui Wang, Hao Xu, Zhanhui Yu, Shunyao Jiang, Yong‐Xin Liu   +6 more
wiley   +1 more source

Novel pathogenic variant in <i>ARMC4</i> identified by whole exome sequencing in a Turkish family with primary ciliary dyskinesia. [PDF]

Front Mol Biosci
Sever EA, Hjeij R, Ata P, Eralp EE, Atag E, Omran H, Karadaǧ BT, Sezerman OU.   +7 more
europepmc   +1 more source

Ovarian Cancer: Epidemiology, Disease Mechanisms, New Diagnosis and Treatment Strategies, and Research Directions

iNew Medicine, EarlyView.
ABSTRACT Ovarian cancer (OC) continues to be the deadliest gynecological malignancy and a significant cause of cancer‐related mortality among women worldwide. Standard treatment strategies typically entail platinum‐based chemotherapy in conjunction with cytoreductive surgery.
Zunera Khalid, Weirong Fan, Farah Nazir, Yixiang Xing, Tengchuan Jin   +4 more
wiley   +1 more source

Axenfeld-Rieger Syndrome with Negative Chromosomal Microarray and Whole-Exome Sequencing: A Case Report. [PDF]

Int Med Case Rep J
Moraes PC, Montalli VAM, Sperandio M, Dos Santos AM, Rosa ACG.   +4 more
europepmc   +1 more source

Genetic Biomarkers in the Risk Assessment of Sudden Cardiac Events: A Personalized Approach

iNew Medicine, EarlyView.
Genetic insights into the risk assessment of sudden cardiac events. ABSTRACT Sudden cardiac events are the leading cause of death worldwide. Conventional risk stratification methods, which largely depend on clinical history, imaging, and electrocardiography, are usually inadequate for identifying high‐risk individuals, especially those without visible ...
Shrikant Verma, Sushma Verma, Mohammad Abbas, Tabrez Faruqui, Bashir Ahmad Mir, Farzana Mahdi   +5 more
wiley   +1 more source

DNA Extracted From Aged Formalin‐Fixed Paraffin‐Embedded Specimens of Patients With Papillary Thyroid Carcinomas Can Be Used for Whole Exome Sequencing

Journal of Clinical Laboratory Analysis, EarlyView.
We aimed to assess the quality of DNA extracted from long‐term stored FFPE specimens of patients with papillary thyroid carcinoma from three hospitals in Hiroshima and their applicability to whole exome sequencing. FFPE samples preserved for up to 55 years may be amenable to sequencing with increased read depth.
Kousuke Tanimoto, Tomonori Hayashi, Hidewaki Nakagawa, Kazuhiro Maejima, Koji Arihiro, Megumu Fujihara, Takashi Nishisaka, Masahiro Ito, Masahiro Nakashima, Naohiro Kato, Zhenqiu Liu, Misa Imaizumi, Alina Brenner, Stephen J. Chanock, Osamu Tanabe, Kotaro Ozasa   +15 more
wiley   +1 more source

Identification of an emerging heterozygous variant in KAT6A by whole exome sequencing: a case report. [PDF]

Transl Pediatr
Guo W, Wang H, Ling S, Liu T, Wang M, Zhang Y.   +5 more
europepmc   +1 more source

European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) position paper on screening, diagnosis and investigation of paediatric metabolic dysfunction‐associated steatotic liver disease

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Metabolic dysfunction‐associated steatotic liver disease (MASLD) is the most common reason for elevated liver enzymes in children in Europe, affecting more than 5% of all children. Since the last iteration of this position paper, there have been substantial advances in our understanding of the disease.
Jake P. Mann, Sander Lefere, Maarten Buytaert, Anna Alisi, Cigdem Arikan, Jernej Brecelj, Rachel M. Brown, Irene Degrassi, Giulia Fiore, Emer Fitzpatrick, Sven Francque, Christian A. Hudert, Wojciech Janczyk, Lauren Johansen, Bart G. Koot, Anastasia Konidari, Eberhard Lurz, Claudia Mandato, Maria Mercadal‐Hally, Hadar Moran‐Lev, Antonella Mosca, Giusy Ranucci, Maria Rogalidou, Penelope C. Rose, Piotr Socha, Pietro Vajro, Elvira Verduci, Anita C. E. Vreugdenhil, Natalia Zavhorodnia, Aglaia Zellos, Ruth De Bruyne   +30 more
wiley   +1 more source

Whole-Exome Sequencing to Screen Personal Neoantigens With High Immunogenicity in Patients With Microsatellite Stability (MSS)-Advanced Colorectal Cancer. [PDF]

Hum Mutat
Li D, Shen W, Yang S, Liu H, Tan X, He X, Hao J, Yin X.   +7 more
europepmc   +1 more source