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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

Genome Sequences Reveal Range Mutations in Induced Pluripotent Stem Cells

Researchers in Nature Genetics detect somatic mutation variation across iPSCs generated from blood or skin fibroblast cell sources, along with selection for BCOR gene mutations.

Researchers Reprogram Plant Roots With Synthetic Genetic Circuit Strategy

Root gene expression was altered with the help of genetic circuits built around a series of synthetic transcriptional regulators in the Nicotiana benthamiana plant in a Science paper.

Infectious Disease Tracking Study Compares Genome Sequencing Approaches

Researchers in BMC Genomics see advantages for capture-based Illumina sequencing and amplicon-based sequencing on the Nanopore instrument, depending on the situation or samples available.

LINE-1 Linked to Premature Aging Conditions

Researchers report in Science Translational Medicine that the accumulation of LINE-1 RNA contributes to premature aging conditions and that symptoms can be improved by targeting them.