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In Print: Last Week's Microarray Papers of Note: Dec 24, 2013

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Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome.

Am J Med Genet A. 2013 Dec 19. [Epub ahead of print]

Shimizu K, et al.

The authors present clinical and molecular cytogenetic findings from a microarray and fluorescence in situ hybridization-based genotype-phenotype analysis of 22 Japanese Wolf-Hirschhorn syndrome patients, the first large non-Western series.


Genome wide association studies for body conformation traits in the Chinese Holstein cattle population.

BMC Genomics. 2013 Dec 17;14(1):897. [Epub ahead of print]

Wu X, et al.

The authors used the Illumina BovineSNP50 BeadChip to identify SNPs that are associated with body conformation traits in 1,314 Chinese Holstein cattle. Fifty-nine significant SNPs associated with 26 conformation traits were identified, six promising candidate genes were suggested, and four SNPs showed genetic correlation for four pairs of traits.


A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates.

Nat Commun. 2013 Dec 17;4:2872.

Tachmazidou I, et al.

The authors genotyped 1,267 individuals from a Greek population isolate on the Illumina HumanExome Beadchip, in search of functional coding variants associated with lipids traits. They found genome-wide significant evidence for association between R19X, a functional variant in APOC3, with increased high-density lipoprotein and decreased triglycerides levels.


VTCdb: a gene co-expression database for the crop species Vitis vinifera (grapevine).

BMC Genomics. 2013 Dec 16;14(1):882. [Epub ahead of print]

Wong D, et al.

The authors present an open access database for the investigation of gene co-expression networks within the cultivated grapevine, Vitis vinifera. The resource was constructed using the latest publicly available microarray datasets from diverse experimental series' using the Affymetrix Vitis vinifera GeneChip and the Roche NimbleGen grape whole-genome microarray chip.

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.