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In Print: Last Week's Microarray Papers of Note: Jul 22, 2014


Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray.
Clin Exp Immunol. 2014 Jul 21. [Epub ahead of print]
Bayer D, et al.

The authors describe a female infant who presented with disseminated vaccine-acquired varicella and vaccine-acquired rubella infections at 13 months of age. A combination of whole exome sequencing and custom-designed chromosomal microarray with exon coverage of primary immunodeficiency genes detected compound heterozygous mutations within the IL7R gene.

Linkage disequilibrium over short physical distances measured in sheep using a high-density SNP chip.
Anim Genet. 2014 Jul 17. [Epub ahead of print]
Kijas J, et al.

The authors used Illumina ovine SNP50 and HD Beadchips to study the persistence of linkage disequilibrium in diverse sheep breeds. The determined that LD varies considerably between sheep breeds, and that sheep appear to contain generally lower levels of LD than do other domestic species, reflecting aspects of their past population history.

Genome-wide microarray analysis of Atlantic cod (Gadus morhua) oocyte and embryo.
BMC Genomics. 2014 Jul 14;15(1):594.
Kugor A, et al.

The authors report a study of early Atlantic cod development that used a genome-wide oligonucleotide microarray to examine the composition and putative roles of polyadenylated transcripts. Transcriptome profiling of the early stages in Atlantic cod revealed the presence of transcripts involved in patterning and development of tissues and organs long before activation of the zygotic genome.

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.