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As shown below, the true incidence of MASI is higher, as the Sanger data base does not have quantitative copy number data for cell lines.
With this established precedent, we chose to leverage the available quantitative copy number measurements to identify CNVs that act as eQTL.
To detect deletions/duplications of GNB1L, we conducted TaqMan® based real-time quantitative copy number tests according to the manufacturer's protocol (Applied Biosystems, Carlsbad, CA).
These findings were in contrast to prior reports of FN mutant studies that focused on gene presence/absence as opposed to quantitative copy number variation.
While we restrict our analyses to half-sib families, our approach is general and could be applied to any data set with both pedigree and quantitative copy number assay components.
In a test data set of 96 subjects sequenced across ~1 Mb genomic sequence using multiplexing technology, our method detected mutations as small as 31 bp, predicted quantitative copy count, and had a low false-positive rate.
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More specifically, Yalch and Elmore-Yalch (Yalch & Elmore-Yalch 1984) found that the message with a quantitative body copy, defined as a message with more clear evidence, generated a higher level of perceived message clarity than the non-quantitative message.
Quantitative TaqMan copy number variant (CNV) assays (Applied Biosystems) were used as an alternate secondary confirmation to FISH analysis.
Quantitative gene copy number measurements were done on 20 primary prostate adenocarcinoma samples, which were obtained after radical prostatectomy from previously untreated prostate cancer patients.
Often, a quantitative CMV copy threshold in blood is used to start antiviral treatment.
In previous work, we estimated via quantitative PCR copy number abundances of these proliferative Ty3/gypsy and Ty1/copia elements in the parental versus hybrid sunflower species (Ungerer et al. 2006; Kawakami et al. 2010).
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