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CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs).
Hum Genet
January 2025
Department of Biomedical Sciences, University of Padova, Padova, Italy.
The Genetics of Neurodevelopmental Disorders Lab in Padua provided a new intellectual disability (ID) Panel challenge for computational methods to predict patient phenotypes and their causal variants in the context of the Critical Assessment of the Genome Interpretation, 6th edition (CAGI6). Eight research teams submitted a total of 30 models to predict phenotypes based on the sequences of 74 genes (VCF format) in 415 pediatric patients affected by Neurodevelopmental Disorders (NDDs). NDDs are clinically and genetically heterogeneous conditions, with onset in infant age.
View Article and Find Full Text PDFSingle-cycle parainfluenza virus type 5 vectors for producing recombinant proteins, including a humanized anti-V5 tag antibody.
J Gen Virol
January 2025
Section for Pathogen Research, Institute for Infection and Immunity, St George's, University of London, London, SW17 0RE, UK.
Parainfluenza virus type 5 (PIV5) can cause either persistent or acute/lytic infections in a wide range of mammalian tissue culture cells. Here, we have generated PIV5 fusion (F)-expressing helper cell lines that support the replication of F-deleted viruses. As proof of the principle that F-deleted single-cycle infectious viruses can be used as safe and efficient expression vectors, we have cloned and expressed a humanized (Hu) version of the mouse anti-V5 tag antibody (clone SV5-Pk1).
View Article and Find Full Text PDFOptical tweezers in biomedical research - progress and techniques.
J Med Life
November 2024
Biophysics and Cellular Biotechnology Department, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
Optical tweezers, which leverage the forces exerted by radiation pressure, have emerged as a pivotal technique for precisely manipulating and analyzing microscopic particles. Since Arthur Ashkin's ground-breaking work in the 1970s and the subsequent development of the single-beam optical trap in 1986, the capabilities of optical tweezers have expanded significantly, enabling the intricate manipulation of biological specimens at the micro- and nanoscale. This review elucidates the foundational principles of optical trapping and their extensive applications in the biomedical sciences.
View Article and Find Full Text PDFApplication of genetic testing criteria for hereditary breast cancer in South Africa.
Breast Cancer Res Treat
January 2025
Division of Human Genetics, Faculty of Health Sciences, National Health Laboratory Service and University of the Witwatersrand, Johannesburg, South Africa.
Purpose: Breast cancer (BC) is the commonest cancer in South African women. A proportion are associated with a pathogenic or likely pathogenic (P/LP) variant in a BC susceptibility gene. Clinical guidelines for genetic testing are used to optimise variant detection while containing costs.
View Article and Find Full Text PDFAn ecosystem for producing and sharing metadata within the web of FAIR Data.
Gigascience
January 2025
INRAE, Université de Bordeaux, F-33610 Cestas, France.
Background: Descriptive metadata are vital for reporting, discovering, leveraging, and mobilizing research datasets. However, resolving metadata issues as part of a data management plan can be complex for data producers. To organize and document data, various descriptive metadata must be created.
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