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In Print: Last Week's Microarray Papers of Note: Jul 23, 2013

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Prenatal diagnosis using array-CGH: A French experience.
Eur J Med Genet. 2013 Jul;56(7):341-5.
Rooryck C, et al.

The authors present chromosomal microarray analysis data from our Fetal Medicine Center at the University Hospital of Bordeaux in France on 224 prospective prenatal diagnoses, and discuss their experiences with CMA.


Best practices and joint calling of the HumanExome BeadChip: the CHARGE Consortium.
PLoS One. 2013 Jul 12;8(7):e68095.
Grove M,et al.

Approximately 62,000 ethnically diverse samples from eleven Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium cohorts were genotyped with the Illumina HumanExome BeadChip. In this study, they assessed the possibility of using intensity data from large numbers of samples to call the genotypes of rare variants. They found that this approach, called joint calling, allowed them to accurately genotype rare variation using array technology. The cluster file from this experiment is available here.


Analysis of copy number variants by three detection algorithms and their association with body size in horses.
BMC Genomics. 2013 Jul 18;14(1):487. [Epub ahead of print]
Metzger J, et al.

The authors performed a comparative evaluation of CNVs in horses using three different CNV detection programs and to identify genomic regions associated with body size in horses. Analysis was performed using the Illumina Equine SNP50 genotyping beadchip for 854 horses. Genome-wide association analysis for body size showed highly significant deleted regions on ECA1, ECA8 and ECA9. Homologous regions to the detected CNVs on ECA1 and ECA9 have also been shown to be correlated with human height.

The Scan

Researchers Develop Polygenic Risk Scores for Dozens of Disease-Related Exposures

With genetic data from two large population cohorts and summary statistics from prior genome-wide association studies, researchers came up with 27 exposure polygenic risk scores in the American Journal of Human Genetics.

US Survey Data Suggests Ancestry Testing Leads Way in Awareness, Use of Genetic Testing Awareness

Although roughly three-quarters of surveyed individuals in a Genetics in Medicine study reported awareness of genetic testing, use of such tests was lower and varied with income, ancestry, and disease history.

Coral Genome Leads to Alternative Amino Acid Pathway Found in Other Non-Model Animals

An alternative cysteine biosynthesis pathway unearthed in the Acropora loripes genome subsequently turned up in sequences from non-mammalian, -nematode, or -arthropod animals, researchers report in Science Advances.

Mosquitos Genetically Modified to Prevent Malaria Spread

A gene drive approach could be used to render mosquitos unable to spread malaria, researchers report in Science Advances.