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In Print: Last Week's Microarray Papers of Note: Jan 28, 2014


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.

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.