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http://dx.doi.org/10.1046/j.1365-3148.2002.00388.x | DOI Listing |
Genet Med
January 2025
Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa. Electronic address:
Purpose: Universal newborn hearing screening (UNHS) programs using audiometric techniques alone are limited in ability to detect non-congenital childhood permanent hearing loss (PHL). In 2019, Ontario launched universal newborn screening (NBS) for PHL risk factors: congenital cytomegalovirus (cCMV) and 22 common variants in GJB2 and SLC26A4. Here we describe our experience with genetic risk factor screening.
View Article and Find Full Text PDFGenome Integr
January 2025
Department of Physiology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Artificial intelligence (AI) offers a broad range of enhancements in medicine. Machine learning and deep learning techniques have shown significant potential in improving diagnosis and treatment outcomes, from assisting clinicians in diagnosing medical images to ascertaining effective drugs for a specific disease. Despite the prospective benefits, adopting AI in clinical settings requires careful consideration, particularly concerning data generalisation and model explainability.
View Article and Find Full Text PDFFront Genome Ed
January 2025
State Key Laboratory of Animal Biotech Breeding, China Agricultural University, Beijing, China.
Primordial germ cells (PGCs) play a crucial role in transmitting genetic information to the next-generation. In chickens, genetically edited PGCs can be propagated and subsequently transplanted into recipient embryos to produce offspring with desired genetic traits. However, during early embryogenesis, the effects of external conditions on PGC migration through the vascular system to the gonads have yet to be explored, which may affect the efficiency of preparing gene-edited chickens.
View Article and Find Full Text PDFNucleic Acids Res
January 2025
Bioinformatics Division, WEHI, Parkville, VIC 3052, Australia.
edgeR is an R/Bioconductor software package for differential analyses of sequencing data in the form of read counts for genes or genomic features. Over the past 15 years, edgeR has been a popular choice for statistical analysis of data from sequencing technologies such as RNA-seq or ChIP-seq. edgeR pioneered the use of the negative binomial distribution to model read count data with replicates and the use of generalized linear models to analyze complex experimental designs.
View Article and Find Full Text PDFAnal Bioanal Chem
January 2025
European Commission, Joint Research Centre, Directorate F - Health and Food, Geel, Belgium.
Certified reference materials (CRMs) play a crucial role in ensuring the quality of analytical measurements. Particularly, the EU labelling legislation on genetically modified organisms (GMOs) in food and feed products explicitly requires CRMs for its implementation. The CRMs are used to calibrate and control the quantitative real-time polymerase chain reaction (qPCR) method and support official control laboratories, such as National Reference Laboratories (NRLs), in maintaining their ISO/IEC 17025 accreditation.
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