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Comparison of Non-Invasive and Minimally Invasive Preimplantation Genetic Testing for Aneuploidy Using Samples Derived from the Same Embryo Culture.
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Collegium Medicum, WSB University, 41-300 Dąbrowa Górnicza, Poland.
: To assess the ploidy status of embryos via preimplantation genetic testing for aneuploidy (PGT-A), a biopsy of trophectoderm (TE) cells can be performed. However, this approach is considered invasive, and therefore the aim of this study was to identify the optimal sample type and sampling day for non-invasive or minimally invasive PGT-A (ni/miPGT-A) in terms of data quality and concordance rates with TE biopsies derived from the same embryos. : This study was performed using 239 embryo cultures.
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Department of Molecular Medicine, Aziz Sancar Institute of Experimental Medicine, Istanbul University, 34093 Istanbul, Türkiye.
Granulomatous mastitis (GM) is a rare, benign, but chronic and recurrent inflammatory breast disease that significantly impacts physical and psychological well-being. It often presents symptoms such as pain, swelling, and discharge, leading to diagnostic confusion with malignancy. The etiology of GM remains unclear, though autoimmune and multifactorial components are suspected.
View Article and Find Full Text PDFAdvances in Whole Genome Sequencing: Methods, Tools, and Applications in Population Genomics.
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Yunnan Provincial Key Laboratory of Animal Nutrition and Feed, Faculty of Animal Science and Technology, Yunnan Agricultural University, Kunming 650201, China.
With the rapid advancement of high-throughput sequencing technologies, whole genome sequencing (WGS) has emerged as a crucial tool for studying genetic variation and population structure. Utilizing population genomics tools to analyze resequencing data allows for the effective integration of selection signals with population history, precise estimation of effective population size, historical population trends, and structural insights, along with the identification of specific genetic loci and variations. This paper reviews current whole genome sequencing technologies, detailing primary research methods, relevant software, and their advantages and limitations within population genomics.
View Article and Find Full Text PDFQuantitative Analysis of Pseudogene-Associated Errors During Germline Variant Calling.
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Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, 125315 Moscow, Russia.
A pseudogene is a non-functional copy of a protein-coding gene. Processed pseudogenes, which are created by the reverse transcription of mRNA and subsequent integration of the resulting cDNA into the genome, being a major pseudogene class, represent a significant challenge in genome analysis due to their high sequence similarity to the parent genes and their frequent absence in the reference genome. This homology can lead to errors in variant identification, as sequences derived from processed pseudogenes can be incorrectly assigned to parental genes, complicating correct variant calling.
View Article and Find Full Text PDFComparative Genomic Analysis Reveals Key Changes in the Genome of That Occurred During Classical Strain Improvement for Production of Antibiotic Cephalosporin C.
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Group of Fungal Genetic Engineering, Federal Research Center "Fundamentals of Biotechnology" of the Russian Academy of Sciences, Leninsky Prosp. 33-2, 119071 Moscow, Russia.
From the 1950s to the present, the main tool for obtaining fungal industrial producers of secondary metabolites remains the so-called classical strain improvement (CSI) methods associated with multi-round random mutagenesis and screening for the level of target products. As a result of the application of such techniques, the yield of target secondary metabolites in high-yielding (HY) strains was increased hundreds of times compared to the wild-type (WT) parental strains. However, the events that occur at the molecular level during CSI programs are still unknown.
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