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This Week in PLOS: Dec 10, 2012

In PLOS Genetics, the University of Chicago's Anna Di Rienzo and collaborators from the US and Ethiopia report on potential genetic contributors to thin air adaptation in two Ethiopian populations. From genome-wide SNP array data for individuals from Amhara or Oromo populations living at high and low altitudes, the team determined that the Ethiopian populations do not seem to share high altitude hemoglobin adaptations reported in Tibetan populations in the past. A distinct SNP did show ties to hemoglobin levels in the Amhara, a population that has peopled Ethiopia's highlands for thousands of years. But for the most part, allele frequency patterns in Ethiopian individuals living at high altitudes pointed to genes contributing to processes such as pathogen defense, cell cycle control, or DNA damage response.

A gene expression signature found in blood samples from individuals with autism spectrum disorder may eventually serve as the basis for a blood-based diagnostic test for ASD, a PLOS One study suggests. Researchers from Boston Children's Hospital, Harvard Medical School, and elsewhere defined the 55-gene set, nicknamed ASD55, through microarray expression analyses of blood samples from almost 100 boys with or without ASD. In a validation group comprised of another 104 ASD cases and 82 controls, blood-based expression of the ASD55 genes correctly distinguished cases and controls around 73 percent of the time in boys and 64 percent of the time in girls. For more on the study, check out a related story from our sister publication GenomeWeb Daily News.

The US Department of Energy Joint Genome Institute's Igor Grigoriev leads an international team characterizing the genomes of fungi from a plant-infecting class called Dothideomycetes in PLOS Pathogens. Using genome data on 18 Dothideomycetes fungi (including 14 sequenced specifically for the study), coupled with genome sequence information for 21 fungi from other classes, the researchers found clues about the sorts of genetic features that distinguish Dothideomycetes fungi with different host interactions and lifestyle patterns — from those that kill plants directly to those that feed on dead organic matter or on living plant material.

The Scan

Myotonic Dystrophy Repeat Detected in Family Genome Sequencing Analysis

While sequencing individuals from a multi-generation family, researchers identified a myotonic dystrophy type 2-related short tandem repeat in the European Journal of Human Genetics.

TB Resistance Insights Gleaned From Genome Sequence, Antimicrobial Response Assays

Researchers in PLOS Biology explore M. tuberculosis resistance with a combination of sequencing and assays looking at the minimum inhibitory concentrations of 13 drugs.

Mendelian Disease Genes Prioritized Using Tissue-Specific Expression Clues

Mendelian gene candidates could be flagged for further functional analyses based on tissue-specific transcriptome and proteome profiles, a new Journal of Human Genetics paper says.

Single-Cell Sequencing Points to Embryo Mosaicism

Mosaicism may affect preimplantation genetic tests for aneuploidy, a single-cell sequencing-based analysis of almost three dozen embryos in PLOS Genetics finds.