Results 11 to 20 of about 112,737 (278)

CNV-WebStore: Online CNV Analysis, Storage and Interpretation [PDF]

BMC Bioinformatics, 2011
Background Microarray technology allows the analysis of genomic aberrations at an ever increasing resolution, making functional interpretation of these vast amounts of data the main bottleneck in routine implementation of high resolution array platforms,
Wuyts Wim, Reyniers Edwin, Vandeweyer Geert, Rooms Liesbeth, Kooy R Frank   +4 more
doaj   +4 more sources

Identification of Copy Number Variation in Domestic Chicken Using Whole-Genome Sequencing Reveals Evidence of Selection in the Genome

Animals, 2019
Copy number variation (CNV) has great significance both functionally and evolutionally. Various CNV studies are in progress to find the cause of human disease and to understand the population structure of livestock.
Donghyeok Seol, Byung June Ko, Bongsang Kim, Han-Ha Chai, Dajeong Lim, Heebal Kim   +5 more
doaj   +1 more source

A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder

Platelets, 2022
Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM) is a rare inherited disorder confirmed with the presence of a pathogenic germline RUNX1 variant and is thought to be heavily underdiagnosed.
Ibrahim Almazni, Pavel Chudakou, Alison Dawson-Meadows, Kate Downes, Kathleen Freson, Joanne Mason, Paula Page, Kim Reay, Bethan Myers, Neil V Morgan   +9 more
doaj   +1 more source

Key Role of Microglial Matrix Metalloproteinases in Choroidal Neovascularization

Frontiers in Cellular Neuroscience, 2021
Age-related macular degeneration (AMD), especially neovascular AMD with choroidal neovascularization (CNV), is the leading cause of blindness in the elderly.
Juhee Kim, Jong-Heon Kim, Ji Yeon Do, Jung Yi Lee, Jung Yi Lee, Ryoji Yanai, In-kyu Lee, In-kyu Lee, In-kyu Lee, Kyoungho Suk, Kyoungho Suk, Dong Ho Park, Dong Ho Park, Dong Ho Park   +13 more
doaj   +1 more source

STR profiling and Copy Number Variation analysis on single, preserved cells using current Whole Genome Amplification methods [PDF]

, 2017
The growing interest in liquid biopsies for cancer research and cell-based non-invasive prenatal testing (NIPT) invigorates the need for improved single cell analysis.
Cornelis, Senne, Deforce, Dieter, Deleye, Lieselot, Tilleman, Laurentijn, Van Nieuwerburgh, Filip, Vander Plaetsen, Ann-Sophie   +5 more
core   +2 more sources

Cost effectiveness of treatments for wet age-related macular degeneration [PDF]

, 2011
Age-related macular degeneration (AMD) is a leading cause of blindness in people aged >= 50 years. Wet AMD in particular has a major impact on patient quality of life and imposes substantial burdens on healthcare systems.
Annemans, Lieven, Gallagher, Meghan, Mitchell, Paul, Thomas, Simu, White, Richard   +4 more
core   +1 more source

Association between choriocapillaris flow deficit and choroidal neovascularization activity in eyes with myopic choroidal neovascularization

Scientific Reports, 2021
Although choriocapillaris flow deficit (CFD) around choroidal neovascularization (CNV) is less associated with CNV activity in myopic eyes, no reports are investigating its size as an indicator of CNV activity.
Sato Uematsu, Hirokazu Sakaguchi, Kaori Sayanagi, Yasushi Ikuno, Ayako Yokoyama, Tomoko Asai, Yoko Fukushima, Chikako Hara, Susumu Sakimoto, Kohji Nishida   +9 more
doaj   +1 more source

A Shallow Convolutional Learning Network for Classification of Cancers Based on Copy Number Variations

Sensors, 2019
Genomic copy number variations (CNVs) are among the most important structural variations. They are linked to several diseases and cancer types. Cancer is a leading cause of death worldwide.
Ahmad AlShibli, Hassan Mathkour
doaj   +1 more source

Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders. [PDF]

, 2019
Identification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD.
Brian, J, Bryson, SE, Buchanan, JA, D'Abate, L, Davies, RW, Dobkins, K, Howe, J, Landa, R, Leef, J, Messinger, D, Ozonoff, S, Scherer, SW, Smith, IM, Stone, WL, Tammimies, K, Thiruvahindrapuram, B, Walker, S, Warren, ZE, Wei, J, Young, G, Yuen, RKC, Zwaigenbaum, L   +21 more
core   +2 more sources

CNVs in Epilepsy [PDF]

Current Genetic Medicine Reports, 2014
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