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In Print: Last Week's Microarray Papers of Note: Jul 2, 2013

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"If it helps …" the use of microarray technology in prenatal testing: Patient and partners reflections.
Am J Med Genet A. 2013 Jul;161(7):1619-27.
Hillman S, Skelton J, Quinlan-Jones E, et al.

The authors interviewed women and their partners diagnosed with a fetal abnormality on prenatal ultrasound examination and receiving genetic testing including chromosomal microarray analysis. Five main themes were recognized; diagnosis, genetic testing, family and support, reflections of the treatment received and emotions. According to the authors, communication of variants of unknown significance presents a "particularly difficult challenge" and "good clear communication by health care professionals is paramount."


A DNA microarray for the versatile diagnosis of infectious diarrhea.
APMIS. 2013 Jul;121(7):634-42.
Donatin E, Buffet S, Leroy Q, et al.

The authors designed a DNA microarray comprising 60-basepair probes spotted 194 times for the multiplex detection of 33 enteropathogenic bacteria and seven enteropathogenic viruses, and the archaeon Methanobrevibacter smithii was used as an internal positive control. Nine pathogen-free stool specimens were used as negative controls. In a validation study, the overall specificity was 100 percent and the overall sensitivity was 97.5 percent.


Segmentation of microarray images using pixel classification-comparison with clustering-based methods.
Comput Biol Med. 2013 Jul 1;43(6):705-16.
Giannakeas N, Karvelis P, Exarchos T, et al.

The authors introduced a supervised method for the segmentation of microarray images using classification techniques. The method is able to characterize the pixels of the image as signal, background, and artefact. The authors believe that segmentation can be improved using their approach by relying on classification instead of clustering.

The Scan

Myotonic Dystrophy Repeat Detected in Family Genome Sequencing Analysis

While sequencing individuals from a multi-generation family, researchers identified a myotonic dystrophy type 2-related short tandem repeat in the European Journal of Human Genetics.

TB Resistance Insights Gleaned From Genome Sequence, Antimicrobial Response Assays

Researchers in PLOS Biology explore M. tuberculosis resistance with a combination of sequencing and assays looking at the minimum inhibitory concentrations of 13 drugs.

Mendelian Disease Genes Prioritized Using Tissue-Specific Expression Clues

Mendelian gene candidates could be flagged for further functional analyses based on tissue-specific transcriptome and proteome profiles, a new Journal of Human Genetics paper says.

Single-Cell Sequencing Points to Embryo Mosaicism

Mosaicism may affect preimplantation genetic tests for aneuploidy, a single-cell sequencing-based analysis of almost three dozen embryos in PLOS Genetics finds.