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In Print: Last Week's Microarray Papers of Note: Mar 4, 2014


The accuracy of chromosomal microarray testing for identification of embryonic mosaicism in human blastocysts.
Mol Cytogenet. 2014 Feb 28;7(1):18. [Epub ahead of print]
Novik V, et al.

The authors of this study set out to establish the limits of detection and the prevalence of chromosome mosaicism in day 5/6 human embryos using CMA with trophectoderm biopsies. They found that chromosomal microarrays can detect mosaicism in TE biopsies when present at levels as low as between 25 and 37 percent and the prevalence of day 5/6 blastocysts, which were mosaic and had no other abnormalities, reached 15 percent among a cohort of 551 embryos examined.

An exploration of genetic counselors' needs and experiences with prenatal chromosomal microarray testing.
J Genet Couns. 2014 Feb 27. [Epub ahead of print]
Bernhardt B, et al.

The authors set out to understand the experiences and needs of genetic counselors when counseling patients about uncertain prenatalmicroarray results, their comfort with various aspects of prenatal genetic counseling, and their interest in additional education and training about prenatal microarray testing. They interviewed 10 genetic counselors about their experiences of providing pre- and post-test genetic counseling about prenatal CMA.

General assessment of copy number variation in normal and tumor tissues of the domestic dog (Canis lupus familiaris).
J Appl Genet. 2014 Feb 27. [Epub ahead of print]
Gurgul A, et al.

The authors used Illumina's CanineHD BeadChip assay to identify both natural and cancer-induced CNVs in the genomes of different dog breeds and in different cancer types occurring in this species. The obtained results showed that structural aberrations are a common phenomenon arising during a tumor progression, and are more complex and widespread in tumors of mesenchymal tissue origin than in epithelial tissue originating tumors.

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.