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QuantiSNP uses the information that many consecutive SNPs within a CNV region must share the effect of a CNV and has an estimated false positive rate of 1 CNV in 100,000 SNPs.
In contrast, the non-responders as judged by fundus findings included more type 1 CNV.
Polypoidal choroidal vasculopathy (PCV) is the entity that may occur as a form of type 1 CNV [ 6].
From the early days of PCV study, it was asked whether PCV originated from abnormal choroidal vessels or was a variant of type 1 CNV [ 4- 6].
Initial type 1 CNV was not a risk factor for non-response as judged by BCVA; this might be related to the remaining RPE barrier function which would inhibit rapid progression of the AMD lesion.
A phase 3 randomised, controlled, double-masked, 2-year trial known as the VIP trial was conducted in eyes with occult (type 1) CNV and no classic component or evidence of recent disease progression.
Similar(46)
Yet, as depicted in Figure 1, CNV-finding algorithms may vary considerably in sensitivity and specificity [13] and therefore we recommend a combination of different algorithms to facilitate interpretation of findings.
We identified 15 CNV in the cohort 68 ASD patients, giving CNV detection rate of 22.1%%.
We identified a total of 245 CNVs, which were located within 51 CNV Regions (CNVRs) in five different sheep breeds.
A reduction in size of more than 50% was observed for 876 CNV regions (76%).
The eight clinically significant CNV contributed to 53.3 % of all CNV (8 out of 15 CNV) detected.
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