Data barriers limit genetic diagnosis
Original story at Nature News & Comment• 4 mentions • 3 months ago
For the first five months of Harrison Harkins’ life, doctors had little idea about what was causing his spinal malformation and inability to gain weight. But in November 2011, Matthew Bainbridge, a computational biologist at Baylor College of Medicine in Houston, Texas, found a clue. After analysing genetic data from Harrison and his parents, Bainbridge discovered that the child had an abnormal version of a gene called ASXL3.But Bainbridge had no easy access to records of other children with ASXL3 mutations, and could not be sure that this mutation was the culprit. So he did what many scientists do: he networked. A Dutch team put Bainbridge in
What they're saying:
14 Feb
David Dobbs @David_Dobbs
RT @WiringTheBrain: Excellent piece on data sharing barriers to genetic diagnoses of rare conditions http://t.co/pHpMJjk1
14 Feb
Nature News&Comment @NatureNews
MT @bmcmatt: Data barriers limit genetic diagnosis: highlights @GenomeMedicine article on import. of data sharing http://t.co/XsBGpSsG
13 Feb
Neuroskeptic @Neuro_Skeptic
RT @bmahersciwriter: Data sharing issues are limiting the potential for genomics to help in rare disease diagnoses. http://t.co/54x7sQde
13 Feb
Brendan Maher @bmahersciwriter
Data sharing issues are limiting the potential for genomics to help in rare disease diagnoses. http://t.co/54x7sQde

