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


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

Germline-Targeting HIV Vaccine Shows Promise in Phase I Trial

A National Institutes of Health-led team reports in Science that a broadly neutralizing antibody HIV vaccine induced bnAb precursors in 97 percent of those given the vaccine.

Study Uncovers Genetic Mutation in Childhood Glaucoma

A study in the Journal of Clinical Investigation ties a heterozygous missense variant in thrombospondin 1 to childhood glaucoma.

Gene Co-Expression Database for Humans, Model Organisms Gets Update

GeneFriends has been updated to include gene and transcript co-expression networks based on RNA-seq data from 46,475 human and 34,322 mouse samples, a new paper in Nucleic Acids Research says.

New Study Investigates Genomics of Fanconi Anemia Repair Pathway in Cancer

A Rockefeller University team reports in Nature that FA repair deficiency leads to structural variants that can contribute to genomic instability.