İstanbul Tıp Fakültesi Dergisi, 2021 Objective: Alpha thalassemia is a common type of hemoglobinopathy that occurs as a result of deletions or point mutations in the alpha globin gene cluster.
Selma Demir +5 more
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MONTAGE: a new tool for high-throughput detection of mosaic copy number variation
BMC Genomics, 2021 Background Not all cells in a given individual are identical in their genomic makeup. Mosaicism describes such a phenomenon where a mixture of genotypic states in certain genomic segments exists within the same individual.
Joseph T. Glessner +7 more
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Identification of CNVs and their association with the meat traits of Hanwoo
Journal of Animal Reproduction and Biotechnology, 2023 Background: Copy number variation (CNV) can be identified using next-generation sequencing and microarray technologies, the research on the analysis of its association with meat traits in livestock breeding has significantly increased in recent years ...
Chan Mi Bang +4 more
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Telomere Length and Mitochondrial DNA Copy Number Variations in Patients with Obesity: Effect of Diet-Induced Weight Loss—A Pilot Study [PDF]
, 2022 Raffaella Cancello +12 more
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Genetic copy number variation and general cognitive ability.
PLoS ONE, 2012 Differences in genomic structure between individuals are ubiquitous features of human genetic variation. Specific copy number variants (CNVs) have been associated with susceptibility to numerous complex psychiatric disorders, including attention-deficit ...
Andrew K MacLeod +20 more
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Mitochondrial DNA copy number variation across human cancers
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
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Copy number variation in salivary amylase: A participant-based study on genetic variation. [PDF]
The Young Researcher, 2017 Amylase (AMY1) is an enzyme found in the mouth that is used to help digest carbohydrates. It has been found that the copy number of AMY1 has been positively associated with protein levels within an individual and also that individual’s population.
Phillips, E.
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Germline copy number variation and ovarian cancer survival
Frontiers in Genetics, 2012 Copy number variants (CNVs) have been implicated in many complex diseases. We examined whether inherited CNVs were associated with overall survival among women with invasive epithelial ovarian cancer.
Brooke L Fridley +16 more
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Web-Based Database and Viewer of East Asian Copy Number Variations [PDF]
Genomics & Informatics, 2012 We have discovered copy number variations (CNVs) in 3,578 Korean individuals with the Affymetrix Genome-Wide SNP array 5.0, and 4,003 copy number variation regions (CNVRs) were defined in a previous study. To explore the details of the variants easily in
Ji-Hong Kim, Hae-Jin Hu, Yeun-Jun Chung
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BIOM-34. GENOMIC PROFILING IDENTIFIED COPY NUMBER VARIATIONS OF CDK4/6 AS A NOVEL PROGNOSTIC BIOMARKER FOR THALAMIC GLIOMA [PDF]
, 2021 Mingyao Lai +7 more
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