Accurate and objective copy number profiling using real-time quantitative PCR

D’haene, Barbara; Vandesompele, Jo; Hellemans, Jan

doi:10.1016/j.ymeth.2009.12.007

Cited by 281 publications

(236 citation statements)

References 11 publications

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“…Primers and conditions can be found in Supplementary Table S2 online; design was done as previously described. 19 qBasePlus software (Biogazelle, Zwijnaarde, Belgium) was used for data analysis, 20 and two reference genes were used for normalization of the relative quantities. Two positive controls with known copy numbers were used as a reference to calculate the copy numbers.…”

Section: Molecular Characterization Of Grid2 Deletionmentioning

confidence: 99%

Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion

Schil

Meire

Karlstetter

et al. 2015

Genetics in Medicine

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Section: Molecular Characterization Of Grid2 Deletionmentioning

confidence: 99%

Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion

Schil

Meire

Karlstetter

et al. 2015

Genetics in Medicine

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“…38 Ideally, the described MPS approach should be complemented with accurate copy number variation detection, using, for instance, multiplex ligation-dependent probe amplification, 39 high-resolution array comparative genomic hybridization, 40 or qPCR. 41 Of note, qPCR for copy number variation detection should meet specific assay requirements that are not included in the current workflow. 41 The MPS panel presented here is the most comprehensive molecular test currently available for LCA.…”

Section: Discussionmentioning

confidence: 99%

“…41 Of note, qPCR for copy number variation detection should meet specific assay requirements that are not included in the current workflow. 41 The MPS panel presented here is the most comprehensive molecular test currently available for LCA. Identification of a molecular diagnosis is highly important for several reasons.…”

Section: Discussionmentioning

confidence: 99%

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis

Coppieters

Wilde

Lefever

et al. 2012

Genetics in Medicine

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Purpose: Leber congenital amaurosis (LCA) is a rare congenital retinal dystrophy associated with 16 genes. Recent breakthroughs in LCA gene therapy offer the first prospect of treating inherited blindness, which requires an unequivocal and early molecular diagnosis. While present genetic tests do not address this due to a tremendous genetic heterogeneity, massively parallel sequencing (MPS) strategies might bring a solution. Here, we developed a comprehensive molecular test for LCA based on targeted MPS of all exons of 16 known LCA genes. methods:We designed a unique and flexible workflow for targeted resequencing of all 236 exons from 16 LCA genes based on quantitative PCR (qPCR) amplicon ligation, shearing, and parallel sequencing of multiple patients on a single lane of a short-read sequencer. Twenty-two prescreened LCA patients were included, five of whom had a known molecular cause.Results: Validation of 107 variations was performed as proof of concept. In addition, the causal genetic defect and a single heterozygous mutation were identified in 3 and 5, respectively, of 17 patients without previously identified mutations. conclusion:We propose a novel targeted MPS-based approach that is suitable for accurate, fast, and cost-effective early molecular testing in LCA, and easily applicable in other genetic disorders.Genet Med 2012:14(6):576-585

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“…Initially we obtained three transgenic lines from each construct, but after characterization we maintained only one TG line for each haplotype of hAT 1 R gene. These TG mice have single copy of the hAT 1 R gene as determined by quantitative PCR (19).…”

Section: Methodsmentioning

confidence: 99%

A Haplotype of Angiotensin Receptor Type 1 Associated with Human Hypertension Increases Blood Pressure in Transgenic Mice

Jain

Prater

Pandey

et al. 2013

Journal of Biological Chemistry

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Background: AT 1 R activation induces oxidative stress, promotes inflammation, and increases blood pressure. Results: SNPs in AT 1 R promoter occur in linkage disequilibrium, forming two haplotypes. Transgenic mice with haplotype I have USF2-dependent AT 1 R overexpression, increased oxidative stress, and increased blood pressure. Conclusion: Haplotype I leads to enhanced expression and pathophysiological effects of AT 1 R. Significance: Polymorphisms in AT 1 R provide for genetic predisposition to hypertension.

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Accurate and objective copy number profiling using real-time quantitative PCR

Cited by 281 publications

References 11 publications

Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion

Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis

A Haplotype of Angiotensin Receptor Type 1 Associated with Human Hypertension Increases Blood Pressure in Transgenic Mice

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