Clinical utility of chromosomal microarray analysis of DNA from buccal cells: detection of mosaicism in three patients.
J Genet Couns. 2014 Aug 15. [Epub ahead of print]
Sdano M, et al.
The authors present three cases of improved diagnosis of mosaic aberrations using buccal specimens for chromosomal microarray analysis. In each case, the aberration was either undetectable in blood or present at such a low level it likely could have gone undetected. These cases highlight the limitations of certain laboratory methodologies for identifying mosaicism.
Pharmacokinetics and pharmacogenomics of daunorubicin in children: a report from the Children's Oncology Group.
Cancer Chemother Pharmacol. 2014 Aug 14. [Epub ahead of print]
Thompson P, et al.
The authors explored the impact of obesity, body composition, and genetic polymorphisms on the pharmacokinetics of daunorubicin in children with cancer. The Affymetrix DMET chip was used for genotyping. They found suggestive associations between FMO3 and GSTP1 haplotypes with daunorubicin PK that could potentially affect efficacy and toxicity.
Genome wide CNV analysis reveals additional variants associated with milk production traits in Holsteins.
BMC Genomics. 2014 Aug 15;15(1):683.
Xu L, et al.
The authors performed a genome-wide association between CNVs and milk production traits in 26,362 Holstein bulls and cows. A total of 99 candidate CNVs were identified using Illumina BovineSNP50 array data, and association tests for each production trait were performed using a linear regression analysis with PCA correlation. They concluded that combining CNV with SNP analyses reveals more genetic variations underlying milk production traits than those revealed by SNPs alone.