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Abstract Objective To investigate the association between ultrasonically detected fetal urinary system abnormalities and chromosomal copy number variations (CNVs) in Heilongjiang Province, northeastern China. Methods Coh...

Graph-based pangenome references often misrepresent Copy Number Variations (CNVs) and Variable Number Tandem Repeats (VNTRs) as alternative acyclic paths, which hinders downstream analyses, degrades alignment behavior, a...

Abstract HER2-positive breast cancer exhibits marked genomic instability and heterogeneity, yet the clonal architecture and copy number variation (CNV) dynamics between ductal carcinoma in situ (DCIS) and invasive ductal...

Abstract Objective To explore the utility of microarray technology in prenatal diagnosis of nasal bone agenesis or hypoplasia. Methods Between July 2018 to October 2023, several cases of abnormal nasal bone development w...

PurposePreimplantation genetic testing for aneuploidy (PGT-A) is essential for selecting embryos free from chromosomal abnormalities before transfer. However, challenges such as detection failures, mosaicism, and the lim...

ICMT cataliza el último paso de un proceso de modificación postraduccional que afecta residuos de cisteína C-terminal en ciertas proteínas. En los últimos años, varios estudios demostraron que puede desempeñar un ...

Jiawei Zhao,1,* Yuting Gou,1,* Yiyang Wang,1,* Yongxiang Li,1 Haotian Ma,1 Yiting Xing,2 Haohao Peng,2 Chenming Guo1,3 1Department of Breast Surgery, Center of Digestive and Vascular, The First Af...

Background and objectives: Tumors are complex systems characterized by variations across genetic, transcriptomic, phenotypic, and microenvironmental levels. This study introduced a novel framework for quantifying cancer ...

Research Article| March 01, 1945 EROSIONAL DEVELOPMENT OF STREAMS AND THEIR DRAINAGE BASINS; HYDROPHYSICAL APPROACH TO QUANTITATIVE MORPHOLOGY ROBERT E HORTON ROBERT E HORTON VOORHEESVILLE, N. Y. Search for other works b...

Abstract Endometriosis is a complex disease that affects 10-15% of women of reproductive age. Familial studies show that relatives of affected patients have a higher risk of developing the disease, implicating a genetic ...

Multiple myeloma (MM) is best understood as a dynamically evolving genomic ecosystem shaped by inherited susceptibility, early oncogenic events, and continuous selective pressures. We propose an evolutionary genomics fra...

Subjects / keywords: genetics, genomics, epigenomics, genetic variants, copy number variations, genetic diseases; Science: Biology (General): Genetics

Wuhua yellow chicken (WHYC) is an important traditional yellow-feathered chicken from China, which is characterized by its white tail feathers, white flight feathers, and strong disease resistance. However, the genomic b...