Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Eur J Hum Genet. 2013 May 1. [Epub ahead of print]
Nava C, Keren B, Mignot C, et al.
For diagnostic purposes, the authors screened 194 individuals with ASDs for CNVs using Illumina SNP arrays. In several probands, they also analyzed candidate genes located in inherited deletions to unmask autosomal recessive variants. Although highly penetrant CNVs or variants inherited in an autosomal recessive manner were detected in rare cases, the authors support the hypothesis that most CNVs contribute to ASDs in association with other CNVs or point variants located elsewhere in the genome.
Detection of germline rearrangements in patients with α- and β-thalassemia using high resolution array CGH.
Blood Cells Mol Dis. 2013 Jun;51(1):39-47.
Blattner A, Brunner-Agten S, Ludin K, et al.
Array comparative genomic hybridization was applied to screen for deletions in the α- and β-globin gene clusters not detected by routine gap-PCR. In total, in 13 patients with hypochromia and inclusion bodies, the α-globin gene cluster was analyzed and in 13 patients with increased fetal hemoglobin levels with or without hypochromia the β-globin gene cluster was examined. All samples were subsequently investigated by multiplex ligation-dependent probe amplification. The authors determined that CGH is a reliable method to screen for deletions in thalassemia and hemoglobinopathy and argue that the method offers the advantage of a high resolution with the possibility to characterize breakpoints on sequence level.
Estimation of variance components for carcass traits in Japanese Black cattle using 50K SNP genotype data.
Anim Sci J. 2013 May 3. [Epub ahead of print]
Watanabe T, Matsuda H, Arakawa A, et al.
In this study, the authors attempted to estimate the variance components of six carcass traits in fattened Japanese Black steers using SNP genotype data. Altogether, 673 steers were genotyped using an Illumina Bovine SNP50 BeadChip and phenotyped for cold carcass weight, ribeye area, rib thickness, subcutaneous fat thickness, estimated yield percent and marbling score as part of the effort.