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History of Biological Databases, Their Importance, and Existence in Modern Scientific and Policy Context.
Genes (Basel)
January 2025
Department of Pediatric Gastroenterology and Metabolic Diseases, Poznan University of Medical Sciences, Szpitalna 27/33, 60-572 Poznan, Poland.
With the development of genome sequencing technologies, the amount of data produced has greatly increased in the last two decades. The abundance of digital sequence information (DSI) has provided research opportunities, improved our understanding of the genome, and led to the discovery of new solutions in industry and medicine. It has also posed certain challenges, i.
View Article and Find Full Text PDFExploring Literacy and Knowledge Gaps and Disparities in Genetics and Oncogenomics Among Cancer Patients and the General Population: A Scoping Review.
Healthcare (Basel)
January 2025
Centre for Research and Technology Hellas, Institute of Applied Biosciences, 57001 Thessaloniki, Greece.
Background: Genetic and genomic literacy is pivotal in empowering cancer patients and citizens to navigate the complexities of omics sciences, resolve misconceptions surrounding clinical research and genetic/genomic testing, and make informed decisions about their health. In a fast-evolving scenario where routine testing has become widespread in healthcare, this scoping review sought to pinpoint existing gaps in literacy and understanding among cancer patients and the general public regarding genetics and genomics.
Methods: Adhering to the PRISMA framework, the review included 43 studies published between January 2018 and June 2024, which evaluated the understanding of genetics and genomics among cancer patients, caregivers, and citizens.
High clinical burden of classical homocystinuria in the United States: a retrospective analysis.
Orphanet J Rare Dis
January 2025
Travere Therapeutics, Inc., San Diego, CA, USA.
Background: Classical homocystinuria (HCU) is a rare genetic metabolic disorder resulting in elevated homocysteine and methionine levels. The clinical characteristics and associated complications of HCU are well documented. However, there is limited published research on the clinical burden of patients with HCU, especially stratified by total homocysteine (tHcy) levels.
View Article and Find Full Text PDFPediatric COVID-19 severity by SARS-CoV-2 lineage and vaccine status in Canada: an IMPACT study.
Pediatr Res
January 2025
Centre for Global Child Health, The Hospital for Sick Children, Toronto, ON, Canada.
Background: Interpretations of pediatric COVID-19 severity are complicated by novel lineages and COVID-19 vaccine introduction. We estimated the risk of severe COVID-19 by SARS-CoV-2 lineage and vaccination status among hospitalized Canadian children.
Methods: Data were collected through the Canadian Paediatric Surveillance Program (April 2020-May 2021) and Canadian Immunization Monitoring Program, ACTive (June 2021-December 2022).
Gene mutation, clinical characteristics and pathology in resectable lung adenocarcinoma.
World J Surg Oncol
January 2025
Department of Thoracic Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan, 410011, China.
Objective: With the wide use of CT scan in clinical practice, more lung cancer was diagnosed in resectable stage. Pathological examination and genetic testing have become a routine procedure for lung adenocarcinoma following radical resection. This study analyzed special pathological components and gene mutations to explore their relationship with clinical characteristics and overall survival.
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