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This Week in PLoS: Feb 20, 2012

In PLoS Genetics this week, a team led by investigators at the Australian National University reports its use of "chromosome painting and gene mapping to deconstruct the DFTD [Tasmanian devil facial tumor disease] karyotype and determine the chromosome and gene rearrangements involved in carcinogenesis." Through its analysis, the team produced detailed maps of both the devil and tumor karyotypes, which the researchers say will aid future genomic investigations into the transmissible cancer.

Elsewhere in the journal, researchers at the University of Southern California present "evidence from the heritable cancer syndrome multiple endocrine neoplasia type 2B" that positive selection for new disease mutations has occurred in the human germline. The USC team also says its study may be "useful for studying other disease mutations with similar characteristics and could uncover additional germline selection pathways or identify true mutation hot spots."

Over in PLoS Computational Biology, a separate team led by researchers at USC discusses the "use of gene ontology annotations to assess functional similarity among orthologs and paralogs." The researchers show there is a global ascertainment bias in experiment-based gene ontology annotations for human and mouse genes, and say that "GO annotations are often incomplete, potentially in a biased manner, and subject to an “open world assumption” (absence of an annotation does not imply absence of a function), and that conclusions drawn from a novel, large-scale GO analysis should whenever possible be supported by careful, in-depth examination of examples, to help ensure the conclusions have a justifiable biological basis."

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.