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

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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

Interfering With Invasive Mussels

The Chicago Tribune reports that researchers are studying whether RNA interference- or CRISPR-based approaches can combat invasive freshwater mussels.

Participation Analysis

A new study finds that women tend to participate less at scientific meetings but that some changes can lead to increased involvement, the Guardian reports.

Right Whales' Decline

A research study plans to use genetic analysis to gain insight into population decline among North American right whales, according to CBC.

Science Papers Tie Rare Mutations to Short Stature, Immunodeficiency; Present Single-Cell Transcriptomics Map

In Science this week: pair of mutations in one gene uncovered in brothers with short stature and immunodeficiency, and more.