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In Print: Last Week's Microarray Papers of Note: Feb 11, 2014


Development and performance of a comprehensive targeted sequencing assay for pan-ethnic screening of carrier status
J Mol Diagn. 2014 Feb 10. [Epub ahead of print]
Tanner, et al.

The authors report the development of the Pan-Ethnic Carrier Screening assay, a targeted sequencing assay for routine screening that simultaneously detects 461 common mutations in 91 different genes underlying severe, early-onset monogenic disorders. The assay is based on the Affymetrix GeneChip microarray platform but generates genomic DNA sequence as the output.

Multilayer-omics analysis of renal cell carcinoma, including the whole exome, methylome and transcriptome.
Int J Cancer. 2014 Feb 6. [Epub ahead of print]
Arai E, et al.

The aim of this study was to identify pathways that have a significant impact during renal carcinogenesis. Sixty-seven paired samples of both non-cancerous renal cortex tissue and cancerous tissue from patients with clear cell renal cell carcinomas were subjected to whole-exome, methylome, and transcriptome analyses using Agilent SureSelect All Exon capture followed by sequencing on an Illumina HiSeq 2000 platform, as well as further analysis by Infinium HumanMethylation27 BeadArray and Agilent SurePrint Human Gene Expression microarray. Sanger sequencing and quantitative reverse transcription-PCR were performed for technical verification.

High-resolution microarray in the assessment of fetal anomalies detected by ultrasound.
Aust N Z J Obstet Gynaecol. 2014 Feb;54(1):46-52.
Charan P, et al.

A prospective cross-sectional study was conducted on women diagnosed with a fetal anomalies between February 2009 and December 2011 who were offered testing by microarray analysis and fluorescent in situ hybridization instead of standard karyotyping. The authors determined that 11.8 percent of the cases would have had a genetic basis of an abnormality with a FISH and banded karyotype, while that figure was approximately tripled to 28.8 percent when they offered both FISH and microarray.

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.