DNA Copy Number Variations
TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia
... Fifty Finnish patients, in whom detailed phenotypic data had been obtained by laparoscopy, were selected for the aCGH analysis, which was performed on a 180 K plat- form (Oxford Gene Technology, Yarnton, Oxford, UK). ...
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Original Article Non-invasive prenatal DNA testing for genomic copy number variations
... of DNA copy number variations, including Robertson translocation, balanced reciprocal translocations, balanced insertion and inver- ...
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Copy number variations and cancer
... DNA copy number variations (CNVs) are an important component of genetic variation, affecting a greater fraction of the genome than single nucleotide polymorphisms ...
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Integration of genomic copy number variations and chemotherapy-response biomarkers in pediatric sarcoma
... that DNA copy number variations (CNVs) and gene fusions lead to altered gene expression and eventually contribute to the development of sarcoma ...55 DNA struc- ture variation sets ...
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Non-invasive prenatal testing reveals copy number variations related to pregnancy complications
... cell-free DNA was collected in BCT tubes (Streck ...the DNA sequen- cing, 15~20 libraries were pooled and sequenced within ~ 200 bp reads using the JingXin BioelectronSeq 4000 Sys- tem (CFDA registration ...
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Genome-Wide Analysis of DNA Copy Number Changes in Liver Steatosis
... because variations in the copy number of detoxification genes have been related to liver pathology, included cancer development or ...genomic DNA from liver tissue and blood of all patients, ...
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Copy number variations in DISC1 and DISC1 - interacting partners in major mental illness
... memory functions. For 9 Swedish control individuals carrying a CNV, in-depth clinical evaluation showed no signs of lifetime psy- chiatric disorders. The 152 probands of the nuclear families were initially identified ...
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Genetic Copy Number Variations in Colon Mucosa Indicating Risk for Colorectal Cancer
... for DNA regions (copy number variations, CNVs) as bio- markers associated to genetic susceptibility for early risk predictions of colorectal ...in DNA from tumor-free colon mucosa at ...
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Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders
... WGS methods are as described in detail elsewhere [1, 24]. In brief, WGS was performed at The Centre for Ap- plied Genomics (Toronto, Canada) using DNA extracted from whole blood. Sequencing was performed with the ...
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Detecting copy number changes in genomic DNA - MAPH and MLPA
... low copy repeats can both be deleted and duplicated, and implies that the number of patients suffering from a microduplication syndrome is currently probably ...genomic variations detected can be ...
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Two cases of intrahepatic cholangiocellular carcinoma with high insertion-deletion ratios that achieved a complete response following chemotherapy combined with PD-1 blockade
... CNVs: Copy number variations; CR: Complete response; DCR: Disease control rate; dMMR: DNA mismatch repair deficiency; FDA: Food and Drug Administration; ICC: Intrahepatic cholangiocarcinoma; ...
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Copy number variations of the ATP binding cassette transporter ABCC6 gene and its pseudogenes
... Genomic DNA from healthy individuals from five populations, Chinese (n = 24), Middle East (n = 20), Mexicans (n = 24), Caucasians (n = 50) and Africans (n = 24), were examined for copy number ...
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Integrated analyses of copy number variations and gene differential expression in lung squamous-cell carcinoma
... 1990s, copy number duplications and deletions were found to cause a quantity of single gene disorders ...in DNA copy num- ber, whether confined to specific genes or affecting whole ...
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Associations of ORMDL1 gene copy number variations with growth traits in four Chinese sheep breeds
... gene copy number variations: Chaka sheep (CK, n = 300, Haixi state, Qinghai province, China), Hu sheep (HU, n = 198, Pingle town, Mengjin county, Henan province, China), Small-tailed Han sheep (STH, ...
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SLC26A4 gene copy number variations in Chinese patients with non syndromic enlarged vestibular aqueduct
... Copy number variations (CNVs) or copy number poly- morphisms are complex gains or losses of several to hun- dreds of kilobases of DNA as a result of deletions, insertions, ...
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Rapid Visualisation of Microarray Copy Number Data for the Detection of Structural Variations Linked to a Disease Phenotype
... unaffected individuals in Pedigree One (upper and lower graphs, respectively) spanning the first 70 Mb of chromosome 11. It can be seen, that at a number of locations the data points diverge from the expected ...
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Rapid and reliable detection of α-globin copy number variations by quantitative real-time PCR
... The copy number for each target was determined by the 2 - ΔΔ Cq ...different DNA concentrations. The HBA-CNV method identified the correct copy numbers in all 108 ...correct copy ...
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A replication study of schizophrenia-related rare copy number variations in a Han Southern Chinese population
... the neurological and psychiatric conditions observed in patients carrying this CNV. The larger expression of the genome by brain tissue compared to other tissues ex- plains the rationale for selecting CNVs as likely ...
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Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11
... structural variations might underlie both cases and employed SNP-array to identify such possible changes (Illumina Human660W-Quad) ...omic DNA samples from parent-patient trios and identi- fied a 24 Mb ...
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Identification of genomic copy number variations associated with specific clinical features of head and neck cancer
... Most variations were classi- fied by the BlueFuse Multi software as potentially patho- genic, 483 out of 689 ...of variations ranged between the cut-off value of 20 kb and whole chromo- ...tumor DNA ...
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