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Copy number variants (CNVs) are deletions or duplications of DNA. CNVs have been increasingly recognized as an important source of both normal genetic variation and pathogenic mutation. Technologies for genome-wide discovery of CNVs facilitate studies of large cohorts of patients and controls to identify CNVs that cause increased risk for disease. Over
openaire +2 more sources
Reconstructing DNA copy number by joint segmentation of multiple sequences [PDF]
The variation in DNA copy number carries information on the modalities of genome evolution and misregulation of DNA replication in cancer cells; its study can be helpful to localize tumor suppressor genes, distinguish different populations of cancerous ...
Lange, Kenneth +2 more
core +4 more sources
De la desregulación y crisis a las finanzas para el desarrollo económico [PDF]
Después de un largo periodo de fuerte desregulación financiera no solo no se generaron condiciones de crecimiento económico sostenido, sino que las posibilidades de desarrollo se extinguieron por completo para el mundo entero, desde China a Estados ...
Alejandro Vanoli, Augusto Magliano
doaj
OCT Angiography: An Upcoming Tool for Diagnosis and Treatment of Retinal Vascular Diseases
Optical Coherence Tomography (OCT) angiography is an upcoming non-invasive and dyeless imaging modality which depicts retinal microvasculature by processing scans taken repeatedly at the same location, at different points of time using Split-spectrum ...
Purnima Sood +2 more
doaj +1 more source
Functional Genomics Profiling of Bladder Urothelial Carcinoma MicroRNAome as a Potential Biomarker. [PDF]
Though bladder urothelial carcinoma is the most common form of bladder cancer, advances in its diagnosis and treatment have been modest in the past few decades.
Li, Wei Tse +4 more
core +2 more sources
CCR3 and choroidal neovascularization. [PDF]
Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in the elderly in industrialized countries. The "wet" AMD, characterized by the development of choroidal neovacularization (CNV), could result in rapid and severe loss ...
Yiwen Li +5 more
doaj +1 more source
Extensive Copy-Number Variation of Young Genes across Stickleback Populations [PDF]
MM received funding from the Max Planck innovation funds for this project. PGDF was supported by a Marie Curie European Reintegration Grant (proposal nr 270891). CE was supported by German Science Foundation grants (DFG, EI 841/4-1 and EI 841/6-1).
A Abyzov +101 more
core +3 more sources
Bioinformatic analysis reveals GSG2 as a potential target for breast cancer therapy
To explore the potential role of GSG2 in breast cancer progression.
Ye Zheng +4 more
doaj +1 more source
Human gene copy number spectra analysis in congenital heart malformations [PDF]
The clinical significance of copy number variants (CNVs) in congenital heart disease (CHD) continues to be a challenge. Although CNVs including genes can confer disease risk, relationships between gene dosage and phenotype are still being defined.
Bick, David P. +13 more
core +2 more sources
Variation of DNA copies number in etiology of congenital heart defects
Past decade, there is a remarkable evidence of that the variation of DNA copies number (copy number variation, CNV) is related with onset of inborn heart defects (IHD). The review is focused on an impact of CNV in IHD development.
A. A. Slepukhina +2 more
doaj +1 more source

