A study published today in The Lancet Respiratory Medicine and presented at the annual Pediatric Academic Societies Meeting revealed the early results of the clinical usefulness of rapid whole-genome sequencing in neonatal ...
Apr 27, 2015
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Scientists at the University of Massachusetts Medical School have applied a powerful tool in a new way to characterize genetic variants associated with human disease. The work, published today in Cell, will allow scientists ...
Apr 23, 2015
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Scientists at the Translational Genomics Research Institute (TGen), using state-of-the-art genetic technology, have discovered the likely cause of a child's rare type of severe muscle weakness.
Apr 9, 2015
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New research from The University of Manchester published in the Journal of Community Genetics reveals a stark variation in genetic testing services for inherited eye disease in England.
Mar 31, 2015
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Thyroid hormones have important and diverse roles in human health and regulate metabolic rate. Thyroid disease is common (affecting 5-10 per cent of the population) and synthetic thyroid hormones are one of the commonest ...
Mar 9, 2015
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Although many people value receiving information about incidental findings identified from genomic sequencing, not everyone wants to know about genetic conditions regardless of potential health implications, found a study ...
Mar 9, 2015
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Single-letter genetic variations within parts of the genome once dismissed as 'junk DNA' can increase cancer risk through wormhole-like effects on far-off genes, new research shows.
Feb 19, 2015
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Dirk Schübeler and his group at the Friedrich Miescher Institute for Biomedical Research (FMI) identify determinants that set epigenetic marks along the genome. The new study, published in Nature, shows that genetic activity ...
Feb 10, 2015
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Rare diseases—those that affect fewer than one in 200,000 people—are often identified early in life. Some 30 percent of children afflicted by these "orphan diseases" do not live to see their fifth birthday. While the ...
Feb 10, 2015
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Using whole genomic sequencing, scientists from RIKEN in Japan have for the first time demonstrated the profound effect that chronic hepatitis infection and inflammation can have on the genetic mutations found in tumors of ...
Jan 30, 2015
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