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In Print: Last Week's Microarray Papers of Note: Feb 25, 2014


Considering specific clinical features as evidence of pathogenic copy number variants.
J Appl Genet. 2014 Feb 18. [Epub ahead of print]
Preiksaitiene E, et al.

The aim of this study was to investigate a well-phenotyped cohort of patients with developmental delay/intellectual disability and determine whether certain clinical features may serve as indicators for pathogenic CNVs. A retrospective analysis was conducted for patients with DD/ID who were tested using genome-wide chromosomal microarray technologies and a review of the clinical data was performed.

Evaluation of copy number variation detection for a SNP array platform.
BMC Bioinformatics. 2014 Feb 21;15(1):50. [Epub ahead of print]
Zhang X, et al.

The authors evaluated four publicly available software packages designed for CNV calling from an Affymetrix SNP array, including Birdsuite, dChip, Genotyping Console, and PennCNV. They found that PennCNV outperformed the other three packages in the sensitivity and specificity of CNV calling.

Neonatal genome-wide methylation patterns in relation to birth weight in the Norwegian mother and child cohort.
Am J Epidemiol. 2014 Feb 20. [Epub ahead of print]
Engel S, et al.

The authors examined epigenome-wide cord blood DNA methylation in relation to birth weight using the Infinium HumanMethylation450 BeadChip in a substudy of 1,046 infants from the Norwegian Mother and Child Cohort Study enrolled between 1999 and 2008.