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How a pediatric hospital's rare disease sequencing system is unlocking the whole genome

Childrenโ€™s Mercy is claiming to build "the most advanced genomic sequencing system in the world" through its novel use of 5-base sequencing. Since launching three years ago, the system has already provided 1,000 children with rare disease diagnoses based on its genome sequencing.
United States Kansas City Stephen Kingsmore Tomi Pastinen Langone Health University Of Nebraska Medical Center

Higher levels of microbiota engraftment linked to greater chances of transplantation success

From incurable intestinal infections to metabolic syndrome, from melanoma, to chronic inflammatory bowel disease, such as irritable bowel syndrome, to Tourette's syndrome: many diseases can potentially be cured by Fecal Microbiota Transplantation (FMT), and researchers from the Catholic University, Rome and the University of Trento have shown that the greater the level of engraftment of the transplanted microorganisms, the greater the chances of success of the therapy.
Agostino Gemelli Giovanni Cammarota Gianluca Ianiro Nicola Segata Antonio Gasbarrini Emily Henderson

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Uncovering the genetic basis of mental illness requires data and tools that aren't just based on white people – this international team is collecting DNA samples around the globe

Existing genetic data and sequencing tools are overwhelmingly based on people of European ancestry, which excludes much of the rich genetic variation of the world.
United States Broad Institute Human Genome Project New Yorkers Stanley Global Northern Europe

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