Results 31 to 40 of about 790,983 (253)
Copy number variation across European populations.
PLoS ONE, 2011 Genome analysis provides a powerful approach to test for evidence of genetic variation within and between geographical regions and local populations. Copy number variants which comprise insertions, deletions and duplications of genomic sequence provide ...
Wanting Chen +10 more
doaj +1 more source
Copy number variation in bipolar disorder [PDF]
Molecular Psychiatry, 2015 Large (>100 kb), rare (500 kb) CNVs in BD compared with SZ, most notably for deletions >1 Mb (P=9 × 10(-4)).
K-G Smith +18 more
openaire +4 more sources
Copy number variation in livestock: A mini review [PDF]
Veterinary World, 2018 Copy number variation (CNV) is a phenomenon in which sections of the genome, ranging from one kilo base pair (Kb) to several million base pairs (Mb), are repeated and the number of repeats vary between the individuals in a population.
V. Bhanuprakash +5 more
doaj +1 more source
Analysis of Genomic Copy Number Variation in Miscarriages During Early and Middle Pregnancy
Frontiers in Genetics, 2021 The purpose of this study was to explore the copy number variations (CNVs) associated with miscarriage during early and middle pregnancy and provide useful genetic guidance for pregnancy and prenatal diagnosis.
Heming Wu +9 more
doaj +1 more source
Copy number variations among silkworms [PDF]
BMC Genomics, 2014 Abstract Background Copy number variations (CNVs), which are important source for genetic and phenotypic variation, have been shown to be associated with disease as well as important QTLs, especially in domesticated animals. However, little is known about the CNVs in silkworm. Results
Qian Zhao +3 more
openaire +2 more sources
Copy Number Variation Disorders [PDF]
Current Genetic Medicine Reports, 2017 Copy number variation (CNV) disorders arise from the dosage imbalance of one or more gene(s), resulting from deletions, duplications or other genomic rearrangements that lead to the loss or gain of genetic material. Several disorders, characterized by multiple birth defects and neurodevelopmental abnormalities, have been associated with relatively ...
openaire +3 more sources
A remark on copy number variation detection methods. [PDF]
PLoS ONE, 2018 Copy number variations (CNVs) are gain and loss of DNA sequence of a genome. High throughput platforms such as microarrays and next generation sequencing technologies (NGS) have been applied for genome wide copy number losses.
Shuo Li +5 more
doaj +1 more source
Copy number variation in Parkinson's disease [PDF]
Genome Medicine, 2010 A central theme of human genetic studies is to understand genomic variation and how this underlies the inherited basis of disease. Genomic variation can provide increased biological understanding of disease processes, which is necessary to develop future treatments.
Owen A. Ross, Mathias Toft
openaire +3 more sources
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
Nature Genetics, 2018 We combined de novo mutation (DNM) data from 10,927 individuals with developmental delay and autism to identify 253 candidate neurodevelopmental disease genes with an excess of missense and/or likely gene-disruptive (LGD) mutations.
Bradley P. Coe +10 more
semanticscholar +1 more source
Evolutionary impact of copy number variation rates
BMC Research Notes, 2017 Objective Copy number variation is now recognized as one of the major sources of genetic variation among individuals in natural populations of any species.
Guillermo Rodrigo
doaj +1 more source