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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.

The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.