Results 11 to 20 of about 12,731,337 (303)
Copy number variation in Thai population. [PDF]
PLoS ONE, 2014 Copy number variation (CNV) is a major genetic polymorphism contributing to genetic diversity and human evolution. Clinical application of CNVs for diagnostic purposes largely depends on sufficient population CNV data for accurate interpretation.
Bhoom Suktitipat +12 more
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Benchmarking scRNA-seq copy number variation callers [PDF]
Nature CommunicationsCopy number variations (CNVs), the gain or loss of genomic regions, are associated with disease, especially cancer. Single cell technologies offer new possibilities to capture within-sample heterogeneity of CNVs and identify subclones relevant for tumor ...
Katharina T. Schmid +6 more
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Copy number variation in the bovine genome [PDF]
BMC Genomics, 2010 Background Copy number variations (CNVs), which represent a significant source of genetic diversity in mammals, have been shown to be associated with phenotypes of clinical relevance and to be causative of disease.
Bendixen Christian +3 more
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Evolutionary impact of copy number variation rates [PDF]
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
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A copy-number variation generates a long-noncoding RNA that enhances [PDF]
Plant CommunicationsSeed size is a key agronomic trait in watermelon: large seeds are favorable for sowing, whereas small-seeded watermelons are preferred for consumption. However, the causal genetic variations and underlying mechanisms that govern seed size in watermelon ...
Jianfei Song +8 more
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Copy Number Variations and Schizophrenia
Molecular Neurobiology, 2022 Abstract Schizophrenia is a neurodevelopmental disorder with genetic and environmental factors involved in its aetiology. Genetic liability contributing to the development of schizophrenia is a subject of extensive research activity, as reliable data regarding its aetiology would enable the improvement of its therapy and the development of new methods ...
Kamila Szecówka +4 more
openaire +3 more sources
BMC Pregnancy and Childbirth, 2022 Background Congenital gastrointestinal obstruction (CGIO) mainly refers to the stenosis or atresia of any part from the esophagus to the anus and is one of the most common surgical causes in the neonatal period.
Xinyue Meng, Lili Jiang
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Genome-wide copy number variations in Bhutia equine breed using SNP genotyping data
Indian Journal of Animal Sciences, 2023 Copy number variants (CNVs) have dynamic potential and evolutionary significance like other genetic variants, namely, single nucleotide polymorphisms, InDels, short tandem repeat polymorphisms, inversion variants, etc.
NITESH KUMAR SHARMA +13 more
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An association between copy number variation of enhancer involved in craniofacial development and biogeographic ancestry [PDF]
, 2022 Human facial morphology is a combination of many complex traits and is determined by a large number of genes and enhancers. Here, we report a Copy Number Variation (CNV) study of enhancer hs1431 in populations of Central European and South Siberian ...
Miroslava V. Derenko +7 more
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Copy Number Variation: Methods and Clinical Applications
Applied Sciences, 2021 Gains and losses of large segments of genomic DNA, known as copy number variants (CNVs) gained considerable interest in clinical diagnostics lately, as particular forms may lead to inherited genetic diseases.
Ondrej Pös +8 more
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