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

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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.

The Scan

Driving Malaria-Carrying Mosquitoes Down

Researchers from the UK and Italy have tested a gene drive for mosquitoes to limit the spread of malaria, NPR reports.

Office Space to Lab Space

The New York Times writes that some empty office spaces are transforming into lab spaces.

Prion Pause to Investigate

Science reports that a moratorium on prion research has been imposed at French public research institutions.

Genome Research Papers on Gut Microbe Antibiotic Response, Single-Cell RNA-Seq Clues to Metabolism, More

In Genome Research this week: gut microbial response to antibiotic treatment, approach to gauge metabolic features from single-cell RNA sequencing, and more.