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Consequently, there are two types of imprecision that affect the determination of regions of focal alteration.
The focal alteration of 3q27.1 spans various proto-oncogenes including ABCC5, ALG3, EIF4G1 and EPHB3.
These will be (i) isolated regions of the UBP (singletons) where focal alteration affects a single locus, or (ii) multiple physically adjacent regions that are merged and assigned the largest genomic boundaries of the event.
20 The GISTIC 2.0 package was employed to identify focal alteration events based on Affymetrix SNP6 microarray data (TCGA and Singapore datasets), while the CGHCall algorithm was used to analyse aCGH data (VUMC dataset).
The process of broncho-alveolar lavage leads to very mild focal alteration of the lung [ 55], being a possible instant stimulus for degranulation and increasing the local Lf concentration.
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In [ 5] we proposed a heuristic measure of focality as a way of identifying focal alterations in copy number data.
Focal alterations include benign neoplasms, malignant neoplasms, and non-neoplastic conditions.
RAE identified broad and focal alterations on 18 chromosome arms (Table 1, Tables S2 S3).
Our study not only validated the previous reports but also revealed novel focal alterations previously not described in oral cancers.
While some potential driver genes could be rapidly identified from this data due to their location on focal alterations, the majority of recurrent alterations are large and encompass numerous genes.
Further analysis of the focal alterations in the highly rearranged genomes of primary melanomas and metastases delimited the boundaries of informative Minimal Common Regions (MCRs) using a set of heuristically defined rules, including recurrence in 2 or more samples of a CNA spanning regions less than 2Mb in size with a peak log2 ratio greater than 1.0 (see Methods).
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