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In Print: Last Week's Microarray Papers of Note: Apr 29, 2014


Two different microarray technologies for preimplantation genetic diagnosis and screening, due to reciprocal translocation imbalances, demonstrate equivalent euploidy and clinical pregnancy rates.
J Assist Reprod Genet. 2014 Apr 26. [Epub ahead of print]
Tobler K, et al.

The authors compare SNP and comparative genomic hybridization microarray platforms to evaluate embryos for parental translocation imbalances and aneuploidy. They conducted a retrospective review of preimplantation genetic diagnosis and screening results of 498 embryos from 63 couples undergoing 75 in vitro fertilization cycles due to parental carriers of a reciprocal translocation. They found no significant difference between SNP and CGH microarrays when comparing the prevalence of embryos that were euploid with no translocation imbalance, euploidy with a parental translocation imbalance, or aneuploid with or without the parental chromosome imbalance.

Validation of a microbead-based format for spoligotyping of Legionella pneumophila.
J Clin Microbiol. 2014 Apr 23. [Epub ahead of print]
Gomgnimbou M, et al.

The authors developed a bead array-based method for subtyping of Legionella pneumophila. In this paper, they describe the transfer of the membrane-based spoligotyping technique to a microbead-based multiplexed format using the Luminex 200 or Magpix systems.

Biological relevance of CNV calling methods using familial relatedness including monozygotic twins.
BMC Bioinformatics. 2014 Apr 21;15(1):114. [Epub ahead of print]
Castellani C, et al.

The authors developed a workflow for the integration of data from multiple CNV calling algorithms using the same array results. It uses four CNV calling programs: PennCNV, Affymetrix Genotyping Console, Partek Genomics Suite, and Golden Helix SVS to analyze CEL files from the Affymetrix Human SNP 6.0 Array. To assess the relative suitability of each program, they used individuals of known genetic relationships and found significant differences in CNV calls obtained by different CNV calling programs.

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.