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In Print: Last Week's Microarray Papers of Note: Apr 1, 2014

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An economic analysis of prenatal cytogenetic technologies for sonographically detected fetal anomalies.
Am J Med Genet A. 2014 Mar 24. [Epub ahead of print]
Harper L, et al.

In this study, the authors performed an economic analysis of cytogenetic technologies in the prenatal diagnosis of sonographically detected fetal anomalies comparing four strategies: (karyotype alone, CMA alone, karyotype and CMA, and karyotype followed by CMA if the karyotype was normal. They determined that CMA alone was the most cost-effective strategy, although karyotype alone and CMA following a normal karyotype are both acceptable alternatives.


Genome-wide DNA methylation analysis of formalin-fixed paraffin embedded colorectal cancer tissue.
Genes Chromosomes Cancer. 2014 Mar 28. [Epub ahead of print]
Dumenil T, et al.

The authors compared fresh and matched FFPE tissue DNA samples using the Illumina Infinium HD Human Methylation 450K BeadChip platform with a companion application for repair and restoration of DNA from FFPE tissue. Their results showed good correlation between fresh and FFPE sample data.


Reference intervals for urinary renal injury biomarkers KIM-1 and NGAL in healthy children.
Biomark Med. 2014 Mar 24. [Epub ahead of print]
McWilliam S, et al.

The aim of this study was to establish reference intervals in healthy children for two novel urinary biomarkers of acute kidney injury, kidney injury molecule-1 (KIM-1) and neutrophil gelatinase-associated lipocalin (NGAL) using both Meso Scale Discovery and Luminex-based analytical approaches. They identified consistently higher NGAL concentrations in females than males and lower KIM-1 concentrations in African-Americans than Caucasians.

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.