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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

Breast Cancer Risk Related to Pathogenic BRCA1 Mutation May Be Modified by Repeats

Several variable number tandem repeats appear to impact breast cancer risk and age at diagnosis in almost 350 individuals carrying a risky Ashkenazi Jewish BRCA1 founder mutation.

Study Explores Animated Digital Message Approach to Communicate Genetic Test Results to Family Members

In the Journal of Genetic Counseling, the approach showed promise in participants presented with a hypothetical scenario related to a familial hereditary breast and ovarian cancer syndrome diagnosis.

Computational Tool Predicts Mammalian Messenger RNA Degradation Rates

A tool called Saluki, trained with mouse and human messenger RNA data, appears to improve mRNA half-life predictions by taking RNA and genetic features into account, a Genome Biology paper reports.

UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer

A randomized pilot study in the Journal of Medical Genetics points to similar outcomes for breast cancer patients receiving germline BRCA testing through fully digital or partially digital testing pathways.