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Loss-of-function mutations in SLC30A8 protect against type 2 diabetes
Lots of LOF! — Boenke mentions: LOF mutations in SLC30A8 protect against T2D http://www.nature.com/ng/journal/v46/n4/full/ng.2915.html Power of combining data for mult. variants #GSPfuture
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One of a Kind – New Yorker
http://www.newyorker.com/magazine/2014/07/21/one-of-a-kind-2 Medical Dispatch JULY 21, 2014 ISSUE One of a Kind What do you do if your child has a condition that is new to science?
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Common Fund for 4D Nucleome Study
http://commonfund.nih.gov/4DNucleome/overview http://www.genomeweb.com/nih-common-fund-launches-initiative-study-nucleome-four-dimensions
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In pursuit of design principles of regulatory sequences – Nat Rev Genet
http://www.nature.com/nrg/journal/v15/n7/abs/nrg3684.html In pursuit of design principles of regulatory sequences Michal Levo & Eran Segal Nature Reviews Genetics 15, 453–468 (2014)...
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Notes from NHGRI planning mtg. on Future Opportunities for Genome Sequencing...
Took lots of notes at the NHGRI planning meeting, http://www.genome.gov/27558232 http://new.livestream.com/accounts/2556895/events/3137731 (session I was in...
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Future Opportunities for Genome Sequencing and Beyond
Workshop Report http://www.genome.gov/27559219 Some quoted snippets that people felt were interesting: QT:{{” NHGRI has been a leader in creating ontologies and standards, and should continue to lead...
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One of a Kind – New Yorker
One of a Kind http://www.newyorker.com/magazine/2014/07/21/one-of-a-kind-2 Story of rare mutation in NGLY1, illustrates power of #socialmedia, quite relevant to @solvemendelian Medical Dispatch JULY...
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