Copy number aberrations (CNAs), which are pathogenic copy number variations (CNVs), play an important role in the initiation and progression of cancer. Single-cell DNA-sequencing (scDNAseq) technologies produce data that is ideal for inferring CNAs. In this review, we review eight methods that have been developed for detecting CNAs in scDNAseq data, and categorize them according to the steps of a seven-step pipeline that they employ. Furthermore, we review models and methods for evolutionary analyses of CNAs from scDNAseq data and highlight advances and future research directions for computational methods for CNA detection from scDNAseq data.
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http://dx.doi.org/10.1186/s13059-020-02119-8 | DOI Listing |
Biochemistry
January 2025
Molecular Biophysics Laboratory, Department of Biological Sciences, Indian Institute of Science Education and Research, Bhopal 462066, India.
The mitochondrial outer membrane (OMM) β-barrel proteins link the mitochondrion with the cytosol, endoplasmic reticulum, and other cellular membranes, establishing cellular homeostasis. Their active insertion and assembly in the outer mitochondrial membrane is achieved in an energy-independent yet highly effective manner by the Sorting and Assembly Machinery (SAM) of the OMM. The core SAM constituent is the 16-stranded transmembrane β-barrel Sam50.
View Article and Find Full Text PDFJ Med Case Rep
January 2025
Department of Pathology and Laboratories, University Hospital Fundación Santa Fe de Bogotá, Bogotá, DC, Colombia.
Background: Adenoid cystic carcinoma of the breast is a rare subtype, constituting less than 3.5% of primary breast carcinomas. Despite being categorized as a type of triple-negative breast cancer, it generally has a favorable prognosis.
View Article and Find Full Text PDFJ Orthop Surg Res
January 2025
Center of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, 610041, China.
Background: Delta large-channel endoscopy and unilateral biportal endoscopy (UBE) are prominent minimally invasive techniques for treating lumbar spinal stenosis, known for minimal tissue damage, clear visualization, and quick recovery. However, rigorous controlled research comparing these procedures is scarce, necessitating further investigation into their respective complications and long-term effectiveness. This randomized controlled trial aims to compare their perioperative outcomes, focusing on postoperative recovery and complications over time.
View Article and Find Full Text PDFNat Genet
January 2025
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Transcription factors are frequent cancer driver genes, exhibiting noted specificity based on the precise cell of origin. We demonstrate that ZIC1 exhibits loss-of-function (LOF) somatic events in group 4 (G4) medulloblastoma through recurrent point mutations, subchromosomal deletions and mono-allelic epigenetic repression (60% of G4 medulloblastoma). In contrast, highly similar SHH medulloblastoma exhibits distinct and diametrically opposed gain-of-function mutations and copy number gains (20% of SHH medulloblastoma).
View Article and Find Full Text PDFSci Rep
January 2025
Guangxi University of Chinese Medicine School of Yao Medicine, Nanning, 530200, Guangxi, China.
Golden camellia species are endangered species with great ecological significance and economic value in the section Chrysantha of the genus Camellia of the family Theaceae. Literature shows that more than 50 species of golden camellia have been found all over the world, but the exact number remains undetermined due to the complex phylogenetic background, the non-uniform classification criteria, and the presence of various synonyms and homonyms; and phylogenetic relationships among golden camellia species at the gene level are yet to be disclosed. Therefore, it is necessary to investigate the divergence time and phylogenetic relationships between all golden camellia species at the gene level to improve their classification system and achieve accurate identification of them.
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