The application of new high-throughput technologies to the study of asthma and other complex diseases is providing a huge amount of genetic information. Particularly, next-generation sequencing generates thousands of variants that have not been previously related to the studied diseases. These new genetic variants require validation both at methodological and clinical level. In this sense, for methodological validation the capillary electrophoresis (CE) sequencing based on Sanger technique continues to be the reference technique. The aim of this chapter is to provide a systematic approach of the in silico procedures to the confirmation of the new genetic variants and to their assessment for the pathogenic condition determination.
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http://dx.doi.org/10.1007/978-1-4939-3652-6_2 | DOI Listing |
Adv Sci (Weinh)
March 2025
National Key Facility for Crop Gene Resources and Genetic Improvement/Key laboratory Grain Crop Genetic Resources Evaluation and Utilization Ministry of Agriculture and Rural Affairs, Institute of Crop Sciences, Chinese Academy of Agricultural Sciences, Beijing, 100081, P. R. China.
Tartary buckwheat (Fagopyrum tataricum) is esteemed as a medicinal crop due to its high nutritional and health value. However, the genetic basis for the variations in Tartary buckwheat grain ionome remains inadequately understood. Through genome-wide association studies (GWAS) on grain ionome, 52 genetic loci are identified associated with 10 elements undergoing selection.
View Article and Find Full Text PDFClin Exp Ophthalmol
March 2025
Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Science, The University of Auckland, Auckland, New Zealand.
Corneal dystrophies are a group of predominantly rare inherited disorders. They are by definition bilateral, relatively symmetrical, and without systemic involvement, affecting corneal transparency and/or refraction. Traditional classification of corneal dystrophies is based on slit-lamp appearance, affected corneal layer and histological features.
View Article and Find Full Text PDFBiosaf Health
December 2024
National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing 102206, China.
Pigs are vital genetic mixing vessels for human and avian influenza viruses because their tracheal epitheliums possess both sialic acid α-2,6-Gal and α-2,3-Gal receptors. Cross-species transmission of influenza A viruses from swine to humans occurs occasionally. The first case of human infection with the Eurasian avian-like H1N1 swine influenza virus (EAH1N1 SIVs) genotype G4 was detected in Jiangsu Province, China, in February 2023, and backtracking epidemiological investigations did not reveal a clear source of the infection.
View Article and Find Full Text PDFOpen Forum Infect Dis
March 2025
School of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy.
Background: Kaposi sarcoma-associated herpesvirus (KSHV), the etiologic agent of Kaposi sarcoma, is human-specific and is thought to have emerged from primate-infecting gammaherpesviruses. KSHV seroprevalence shows geographic variation, being highest in sub-Saharan Africa, intermediate in the Mediterranean area, and low in most other locations. However, KSHV prevalence is also particularly high in specific regions such as the Miyako Islands (Japan).
View Article and Find Full Text PDFBiosaf Health
April 2024
Tianjin Centers for Disease Control and Prevention, Tianjin 300011, China.
The coronavirus disease 2019 (COVID-19) pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has severely impacted public health. In 2022, the Omicron variant of SARS-CoV-2 rapidly became the dominant circulating variant in the local COVID-19 outbreaks in Tianjin Municipality, China. To gain a deeper understanding of the genetic variations of the Omicron variant in Tianjin, specimens from individuals who tested positive for SARS-CoV-2 between December 2021 and November 2022 were used for virus whole genome sequencing and phylogenetic analysis.
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