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In Print: Last Week's Microarray Papers of Note: May 13, 2014


Infinium monkeys: Infinium 450K array for the Cynomolgus macaque (Macaca fascicularis).
G3 (Bethesda). 2014 May 8. [Epub ahead of print]
Ong M, et al.

Though the Infinium 450K is a hybridization array designed to the human genome, the relative conservation between the macaque and human genomes makes its use in macaques feasible, according to the authors of this paper. They used the Infinium 450K array to assay DNA methylation in eleven macaque muscle biopsies and showed that probe hybridization efficiency was related to the degree of sequence identity between the human probes and the macaque genome sequence.

Copy number variation plays an important role in clinical epilepsy.
Ann Neurol. 2014 May 9. doi: 10.1002/ana.24178. [Epub ahead of print]
Olson H, et al.

The authors set out to evaluate the role of copy number abnormalities detectable by chromosomal microarray testing in patients with epilepsy at a tertiary care center. They observed numerous recurrent CNVs including 10 involving loss or gain of Xp22.31, a region described in patients with and without epilepsy. Given that the diagnostic yield of CMA for epilepsy patients is similar to the yield in autism spectrum disorders and in prenatal diagnosis, for which published guidelines recommend testing with CMA, the authors recommended the implementation of CMA in the evaluation of unexplained epilepsy.

Towards genomic selection for facial eczema disease tolerance in the New Zealand sheep industry.
Anim Genet. 2014 May 7. [Epub ahead of print]
Phua S, et al.

The authors used the Illumina OvineSNP50 BeadChip to develop a genome-enabled prediction approach to screen for facial eczema-tolerant sheep. Their current best genomic prediction for FE is for the Romney breed and has an accuracy of 0.38. Though the prediction accuracy is not as high as the individual accuracy gained by an artificial challenge test, it has the advantage of being a non-invasive test and can be provided as part of genomic testing for other traits at minimal cost.

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.