Results 11 to 20 of about 1,224,700 (304)
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
doaj +4 more sources
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
doaj +2 more sources
Copy Number Variation at the APOL1 Locus. [PDF]
PLoS ONE, 2015 Two coding variants in the APOL1 gene (G1 and G2) explain most of the high rate of kidney disease in African Americans. APOL1-associated kidney disease risk inheritance follows an autosomal recessive pattern: The relative risk of kidney disease ...
Rupam Ruchi +9 more
doaj +6 more sources
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
doaj +3 more sources
Copy number variation in the horse genome. [PDF]
PLoS Genetics, 2014 We constructed a 400K WG tiling oligoarray for the horse and applied it for the discovery of copy number variations (CNVs) in 38 normal horses of 16 diverse breeds, and the Przewalski horse.
Sharmila Ghosh +11 more
doaj +5 more sources
Mitochondrial DNA copy number variation across human cancers [PDF]
eLife, 2016 Mutations, deletions, and changes in copy number of mitochondrial DNA (mtDNA), are observed throughout cancers. Here, we survey mtDNA copy number variation across 22 tumor types profiled by The Cancer Genome Atlas project.
Ed Reznik +10 more
doaj +3 more sources
β-Defensin gene copy number variation in cattle [PDF]
Royal Society Open Scienceβ-Defensins are peptides with antimicrobial roles, characterized by a conserved tertiary structure. Beyond antimicrobial functions, they exhibit diverse roles in both the immune response and fertility, including involvement in sperm maturation and ...
Ozge Sidekli +4 more
doaj +2 more sources
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
doaj +1 more source
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
doaj +1 more source