Results 11 to 20 of about 114,077 (305)

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

Pigment Intensity in Dogs is Associated with a Copy Number Variant Upstream of KITLG. [PDF]

, 2020
Dogs exhibit a wide variety of coat color types, and many genes have been identified that control pigment production, appearance, and distribution. Some breeds, such as the Nova Scotia Duck Tolling Retriever (NSDTR), exhibit variation in pheomelanin ...
Affolter, Verena, Bannasch, Danika, Grahn, Robert, Kallenberg, Angelica, Rebhun, Robert, Weich, Kalie, York, Daniel   +6 more
core   +2 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

Global increases in both common and rare copy number load associated with autism. [PDF]

, 2013
Children with autism have an elevated frequency of large, rare copy number variants (CNVs). However, the global load of deletions or duplications, per se, and their size, location and relationship to clinical manifestations of autism have not been ...
Baker, Carl, Balciuniene, Jorune, Eichler, Evan E, Fox, Keolu, Girirajan, Santhosh, Hansen, Robin, Hertz-Picciotto, Irva, Johnson, Rebecca L, Katiyar, Neerja, Khoo, Su Jen, Nauth, Therese B, Pessah, Isaac N, Ritchie, Marylyn, Selleck, Scott B, Srikanth, Abhinaya, Tassone, Flora, Yeoh, Kian Hui   +16 more
core   +2 more sources

A Poisson hierarchical modelling approach to detecting copy number variation in sequence coverage data. [PDF]

, 2013
BACKGROUND: The advent of next generation sequencing technology has accelerated efforts to map and catalogue copy number variation (CNV) in genomes of important micro-organisms for public health.
Assefa, Samuel A, Campino, Susana G, Clark, Taane G, Pain, Arnab, Sepúlveda, Nuno, Sutherland, Colin J   +5 more
core   +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

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

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

Susceptibility loci CNVs with incomplete penetrance accurate diagnosis with uncertain prognosis [PDF]

, 2019
Chromosomal microarray analysis (CMA) is the first-tier test for developmental delay, autism spectrum disorders, and congenital abnormalities in postnatal diagnosis and for ultrasound abnormalities in prenatal diagnosis.
Correia, Hildeberto, Marques, Barbara, Serafim, Silvia   +2 more
core   +1 more source