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In Print: Last Week's Microarray Papers of Note: Sep 2, 2014


Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications.
Brain Dev. 2014 Aug 26. [Epub ahead of print]
Shimada S. et al.

The authors used chromosomal microarrays to analyze genomic copy number variations in 86 patients with Monosomy 1p36 syndrome, a commonly observed subtelomeric deletion syndrome characterized by intellectual disability, epilepsy, and distinct craniofacial features. They narrowed the region responsible for these craniofacial features and intellectual disability into 1.8-2.1 and 1.8-2.2Mb regions, respectively. The study also revealed that female patients who acquired ambulatory ability were likely to be at risk for obesity.

Copy number variation in Han Chinese individuals with autism spectrum disorder.
J Neurodev Disord. 2014;6(1):34.
Gazzellone M. et al.

The authors report on rare CNVs detected in a cohort of individuals with autism spectrum disorder of Han Chinese background. They genotyped 104 samples on the Affymetrix CytoScan HD platform. Rare CNVs were identified by comparing data with 873 technology-matched controls from Ontario and 1,235 additional population controls of Han Chinese ethnicity.

oxBS-450K: A method for analysing hydroxymethylation using 450K BeadChips.
Methods. 2014 Aug 28. [Epub ahead of print]
Stewart S. et al.

According to the authors, while the the Infinium HumanMethylation450 BeadChip is currently the platform of choice for epigenome-wide association studies, its processing relies on traditional bisulfate-based protocols that cannot discriminate between 5-methylcytosine and 5-hydroxymethylcytosine. The authors report the adaptation of recently developed oxidative bisulfate chemistry to specifically detect both 5mC and 5hmC in a single workflow using 450K BeadChips.