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Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting.
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CENTOGENE GmbH, Rostock, Germany.
We aimed to assess the impact of splicing variants reported in our laboratory to gain insight into their clinical relevance. A total of 108 consecutive individuals, for whom 113 splicing variants had been reported, were selected for RNA-sequencing (RNA-seq), considering the gene expression in blood. A protocol was developed to perform RNA extraction and sequencing using the same sample (dried blood spots, DBS) provided for the DNA analysis, including library preparation and bioinformatic pipeline analysis.
View Article and Find Full Text PDFFrom cytogenetics to cytogenomics: a new era in the diagnosis of chromosomal abnormalities in domestic animals.
J Appl Genet
January 2025
Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Poznan, Poland.
Identification of chromosomal abnormalities is an important issue in animal breeding and veterinary medicine. Routine cytogenetic diagnosis of domestic animals began in the 1960s with the aim of identifying carriers of centric fusion between chromosome 1 and 29 in cattle. In the 1970s, chromosome banding techniques were introduced, and in the 1980s, the first cytogenomic techniques, based on the development of locus- and chromosome-specific probes, were used.
View Article and Find Full Text PDFCongeneric Rodents Differ in Immune Gene Expression: Implications for Host Competence for Tick-Borne Pathogens.
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Global Health and Interdisciplinary Disease Research Center and Center for Genomics, College of Public Health, Interdisciplinary Research Building (IDRB), Tampa, Florida, USA.
Mice in the genus Peromyscus are abundant and geographically widespread in North America, serving as reservoirs for zoonotic pathogens, including Borrelia burgdorferi (B. burgdorferi), the causative agent of Lyme disease, transmitted by Ixodes scapularis ticks. While the white-footed mouse (Peromyscus leucopus (P.
View Article and Find Full Text PDFTwo Years of SARS-CoV-2 Omicron Genomic Evolution in Brazil (2022-2024): Subvariant Tracking and Assessment of Regional Sequencing Efforts.
Viruses
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Bioinformatics and Biotechnology Laboratory, Campus of Gurupi, Federal University of Tocantins, Gurupi 77410-570, Brazil.
SARS-CoV-2, the virus responsible for COVID-19, has undergone significant genetic evolution since its emergence in 2019. This study examines the genomic diversity of SARS-CoV-2 in Brazil after the worst phase of the pandemic, the wider adoption of routine vaccination, and the abolishment of other non-pharmacological preventive measures from July 2022 to July 2024 using 55,951 sequences retrieved from the GISAID database. The analysis focuses on the correlation between confirmed COVID-19 cases, sequencing efforts across Brazilian states, and the distribution and evolution of viral lineages.
View Article and Find Full Text PDFCharacterization of Esocid Herpesvirus 1 (EsHV1) from Europe.
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Swedish Veterinary Agency, 751 89 Uppsala, Sweden.
During routine sampling of northern pike, a male with circular blue-metallic granular spots mainly located on the head and back was identified. Histological investigations presented multifocally thickened epidermis rich in basophilic large structures with a granulated rim and a dense, non-granulated center. Other organs showed no signs of infection.
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