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What Does it Mean?: Feb 4, 2013

A $125,000 machine from Knome aims to take the pain out of genome analysis. As The New York Times reports, the cost of sequencing a human genome is dropping, though analysis is still an issue and the machine, called the knoSYSTM100, may help researchers interpret what those sequences mean. For an extra $25,000 a year, users can get software updates and technical support.

"Basically this machine removes the need to maintain an expensive computational facility and a group of people who make sure the operating system is working and keep the reference data up to date," Peter Nagy from Columbia University says. He tells the Times that he is thinking about getting the machine to use in the clinic.

The machine, the Times adds, could be a boon for smaller labs that don't have access to such computational resources.

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.