Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations
Sign Up to like & getrecommendations! Published in 2020 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2019.20415
Abstract: This cohort study assesses whether copy number variations are associated with specific phenotypes in patients with germline PTEN mutations. read more here.
Keywords: copy number; number variation; patients germline; pten mutations ... See more keywords
Analyzing Copy Number Variation Using Pulsed-Field Gel Electrophoresis: Providing a Genetic Diagnosis for FSHD1.
Sign Up to like & getrecommendations! Published in 2017 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-6442-0_7
Abstract: The myopathy facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by copy number variation of the D4Z4 macrosatellite repeat on chromosome 4. In unaffected individuals the number of 3.3 kb D4Z4 units varies between 8… read more here.
Keywords: copy number; number variation; gel electrophoresis; pulsed field ... See more keywords
Genomic landscape of copy number variation and copy neutral loss of heterozygosity events in equine sarcoids reveals increased instability of the sarcoid genome.
Sign Up to like & getrecommendations! Published in 2017 at "Biochimie"
DOI: 10.1016/j.biochi.2017.07.006
Abstract: Although they are the most common neoplasms in equids, sarcoids are not fully characterized at the molecular level. Therefore, the objective of this study was to characterize the landscape of structural rearrangements, such as copy… read more here.
Keywords: copy number; number variation; neutral loss; loss heterozygosity ... See more keywords
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Sign Up to like & getrecommendations! Published in 2017 at "Gene"
DOI: 10.1016/j.gene.2017.05.032
Abstract: Intellectual disability (ID) is a complex and phenotypically heterogeneous neurodevelopmental disorder characterized by significant deficits in cognitive and adaptive skills, debuting during the developmental period. In the last decade, microarray-based copy number variation (CNV) analysis… read more here.
Keywords: intellectual disability; copy number; number variation;
Copy-number variation in goat genome sequence: A comparative analysis of the different litter size trait groups.
Sign Up to like & getrecommendations! Published in 2019 at "Gene"
DOI: 10.1016/j.gene.2019.02.027
Abstract: Copy number variation (CNV), as an important component of genomic structural variation (SV), plays essential roles in phenotypic variability, disease susceptibility and species evolution. To investigate whether critical CNVs exist in dairy goats with differing… read more here.
Keywords: litter size; copy number; variation; number variation ... See more keywords
Detection and quantitation of copy number variation in the voltage-gated sodium channel gene of the mosquito Culex quinquefasciatus
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-06080-8
Abstract: Insecticide resistance is typically associated with alterations to the insecticidal target-site or with gene expression variation at loci involved in insecticide detoxification. In some species copy number variation (CNV) of target site loci (e.g. the… read more here.
Keywords: copy number; variation; number variation; culex quinquefasciatus ... See more keywords
Adaptation by copy number variation increases insecticide resistance in the fall armyworm
Sign Up to like & getrecommendations! Published in 2020 at "Communications Biology"
DOI: 10.1038/s42003-020-01382-6
Abstract: Understanding the genetic basis of insecticide resistance is a key topic in agricultural ecology. The adaptive evolution of multi-copy detoxification genes has been interpreted as a cause of insecticide resistance, yet the same pattern can… read more here.
Keywords: insecticide resistance; copy number; resistance; number variation ... See more keywords
An accurate and powerful method for copy number variation detection
Sign Up to like & getrecommendations! Published in 2019 at "Bioinformatics"
DOI: 10.1093/bioinformatics/bty1041
Abstract: Motivation Integration of multiple genetic sources for copy number variation detection (CNV) is a powerful approach to improve the identification of variants associated with complex traits. Although it has been shown that the widely used… read more here.
Keywords: number; copy number; number variation; variation detection ... See more keywords
The genomic substrate for adaptive radiation: Copy Number Variation across 12 tribes of African cichlid species.
Sign Up to like & getrecommendations! Published in 2019 at "Genome biology and evolution"
DOI: 10.1093/gbe/evz185
Abstract: The initial sequencing of 5 cichlid genomes revealed an accumulation of genetic variation, including extensive copy number variation in cichlid lineages particularly those that have undergone dramatic evolutionary radiation. Gene duplication has the potential to… read more here.
Keywords: copy number; variation; number variation; radiation ... See more keywords
Gene copy number variation and pediatric mental health/neurodevelopment in a general population.
Sign Up to like & getrecommendations! Published in 2023 at "Human molecular genetics"
DOI: 10.1093/hmg/ddad074
Abstract: We assessed the relationship of gene copy number variation (CNV) in mental health/neurodevelopmental traits and diagnoses, physical health, and cognition in a community sample of 7100 unrelated children and youth of European or East Asian… read more here.
Keywords: gene copy; health; copy number; mental health ... See more keywords
319 Copy number variation of PRAME gene across dairy breeds.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Animal Science"
DOI: 10.1093/jas/sky404.266
Abstract: The PRAME gene plays an important role on reproduction function in cattle and that gene almost present in high copy number in the mammalian genome. Copy number variation (CNV) states have been used in population… read more here.
Keywords: prame gene; number; copy number; number variation ... See more keywords