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1.
J Bioinform Comput Biol ; 21(6): 2350026, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38212874

RESUMEN

Copy number variation (CNV), as a type of genomic structural variation, accounts for a large proportion of structural variation and is related to the pathogenesis and susceptibility to some human diseases, playing an important role in the development and change of human diseases. The development of next-generation sequencing technology (NGS) provides strong support for the design of CNV detection algorithms. Although a large number of methods have been developed to detect CNVs using NGS data, it is still considered a difficult problem to detect CNVs with low purity and coverage. In this paper, a new calculation method CNV-FB is proposed to detect CNVs from NGS data. The core idea of CNV-FB is to randomly sample the read depth values of the genome fragment, and then each sample is individually detected for outliers, and finally combined into a final outlier score. The CNV-FB method was applied to simulation data and real data experiments and compared with the other five methods of the same type. The results show that the CNV-FB method has a better detection effect than other methods. Therefore, the CNV-FB method may be an effective algorithm for detecting genomic mutations.


Asunto(s)
Variaciones en el Número de Copia de ADN , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Simulación por Computador , Algoritmos , Tecnología
2.
Polymers (Basel) ; 15(1)2022 Dec 27.
Artículo en Inglés | MEDLINE | ID: mdl-36616459

RESUMEN

Biodegradable materials are a next-generation invention for the treatment of congenital heart diseases. However, the corresponding technology used to develop ideal biomaterials still presents challenges. We previously reported the first biodegradable atrial septal defect (ASD) occluder made of poly-lactic acid (PLLA). Unfortunately, the PLLA occluder had a limited endothelialization effect. In this study, the surface of the occluder membrane was coated with sericin/CD34 antibodies to promote the growth of endothelial cells and the regeneration of defective tissue and enhance the repair of the atrial septal defect. The physicochemical properties of the coat on the surface of the fiber membrane were characterized. The sericin coat successfully covered the fiber surface of the membrane, and the thickness of the membrane increased with the sericin concentration. The swelling rate reached 230%. The microscopic observation of fluorescently labeled CD34 antibodies showed that the antibodies successfully attached to the fiber membrane; the fluorescence intensity of PLLA-SH5 was particularly high. The in vitro experiment showed that the PLLA-SH-CD34 fiber membrane was biocompatible and promoted the adhesion and proliferation of endothelial cells. According to our findings, the PLLA-SH-CD34 membrane provides a theoretical and technical basis for the research and development of novel biodegradable occluders.

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