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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

Lung Cancer Response to Checkpoint Inhibitors Reflected in Circulating Tumor DNA

In non-small cell lung cancer patients, researchers find in JCO Precision Oncology that survival benefits after immune checkpoint blockade coincide with a dip in ctDNA levels.

Study Reviews Family, Provider Responses to Rapid Whole-Genome Sequencing Follow-up

Investigators identified in the European Journal of Human Genetics variable follow-up practices after rapid whole-genome sequencing.

BMI-Related Variants Show Age-Related Stability in UK Biobank Participants

Researchers followed body mass index variant stability with genomic structural equation modeling and genome-wide association studies of 40- to 72-year olds in PLOS Genetics.

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.