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The alterations were verified manually using IGV.
Large alterations were verified using the SALSA MLPA Kit P087 BRCA1 (MRC-Holland).
Variant calls other than known nonpathogenic alterations were verified by Sanger sequencing in sense and antisense directions before reporting.
Detected sequence alterations were verified and re-sequenced by forward and reverse sequencing of the involved exons.
CVD was diagnosed if: the patient had acute myocardial infarction, or had ECG signs of myocardial infarction, recorded semi-annually; the coronary disease was treated with coronary bypass operation or angioplasty; or angina was verified by angiography and/or the ischemic alterations were verified by a non-invasive test or tissue Doppler's examination.
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Morphological alterations under treatment conditions were verified by bright field microscopy.
Two novel discrete alterations identified by array CGH were verified by fluorescence in situ hybridization.
All 12 large genomic alterations in BRCA1 reported in this study were verified using the P087 MLPA Kit.
CNVs were verified in DGV database, that contains the genomic alterations involving segments of DNA that are larger than >50bp identified in healthy control samples (DGV update: 31/05/2013).
Alterations of maximal cerebral uptake of [I]IBZM by >20% (116 kBq) were verified with the prerequisite of 50% striatal of total uptake.
Constructions were verified by sequencing.
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