A German and Turkish research team describes a multiplex amplification and next-generation sequencing approach for diagnosing yellow fever, Rift Valley fever, Ebola, and other viral hemorrhagic fevers. As they report in PLOS Neglected Tropical Diseases, the researchers developed a multiplex amplification panel based on two primer pair pools targeting 46 hemorrhagic fever viruses, producing amplicons that were successfully sequenced to identify viruses — and the variants they contained — in in silico validation experiments and in patient blood samples. Though the approach depends on the suitable primer availability, the authors explain, the enrichment and sequencing method appears to be a promising strategy for rapidly diagnosing viral hemorrhagic fevers.
In PLOS Genetics, researchers from the University of Southern California, the Translational Genomic Research Institute, and elsewhere present findings from a molecular analysis of multiple myeloma in African American and Caucasian individuals. The team used exome sequencing and RNA sequencing to profile samples from 128 African Americans and 593 Caucasians with multiple myeloma, bringing clinical and ancestry data into the subsequent analyses. The results hint that mutation frequencies differs somewhat in African Americans, who tend to have higher rates of multiple myeloma and poorer outcomes. Mutations in TP53 were more common in Caucasian tumors, for example, while genes such as BCL7A, BRWD3, or AUTS2 had higher mutation rates in multiple myelomas from African Americans. GenomeWeb has more on this, here.
A team from the University of Minnesota, Mars Veterinary, and Purdue University considers the prevalence of recessive disease-associated mutations in mixed-breed dogs for a study in PLOS One. Using the commercial Wisdom Panel test and Sequenom MassArray validation, the team genotyped mutations 34,324 mixed-breed pooches, searching for mutations implicated in five autosomal recessive conditions. While some conditions were absent, the search revealed dozens of dogs with factor VII deficiency or hyperuricosuria and hyperuricemia, prompting the authors to caution that the "assumption that mixed-breed dogs do not suffer from single-gene genetic disorders is shown here to be false." They note that ongoing testing of more genetic conditions "will refine our knowledge of which genetic diseases can strike mixed-breed dogs."