Coverage and efficiency in current SNP chips.
Eur J Hum Genet. 2014 Jan 22. doi: 10.1038/ejhg.2013.304. [Epub ahead of print]
Ha NT, et al.
To answer the question as to which commercial high-density SNP chip covers most of the human genome given a fixed budget, the authors compared the performance of 12 chips of different sizes released by Affymetrix and Illumina for the European, Asian, and African populations. They identified the Affymetrix population-optimized arrays as offering the most cost-effective coverage for Asian and African populations. For European populations, they established the Illumina HumanOmni2.5-8 BeadChip as the preferred choice. Coverage estimates calculated for all chips proved much lower than those advertised by the vendors.
Chromosomal microarray analysis allows prenatal detection of low-level mosaic autosomal aneuploidy.
Prenat Diagn. 2014 Jan 26. [Epub ahead of print]
Hall G, et al.
The authors found chromosomal microarray analysis to be effective in detecting low-level mosaic autosomal aneuploidy in a prenatal setting which traditional methods may fail to detect. They argue that this detection of low-level mosaicism supports the use of chromosomal microarray analysis in prenatal diagnosis.
Who are the Okinawans? Ancestry, genome diversity, and implications for the genetic study of human longevity from a geographically isolated population..
J Gerontol A Biol Sci Med Sci. 2014 Jan 20. [Epub ahead of print]
Bendjilali N, et al.
The authors used Affymetrix SNP chips to assess Okinawans, a population isolate, recognized for longevity. Okinawans clustered almost exclusively with East Asians, they found. Following a sibling relative risk analysis, they also determined that siblings of Okinawan centenarians have 3.11 times (females) and 3.77 times (males) more likelihood of centenarianism.