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The 100,000 genomes project and youPatrick Chinnery
Institute of Genetic Medicine
Gregor Mendel1822-1884
Human chromosomes
23
“Junk” DNA
Year 2000 = $3Billion
Gordon E Moore 1965
Rare diseases
December 2012
• Rare diseases• Infection• Cancer
Newcastle recruitment - December 2014
LondonNewcastleCambridge
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Functional classification of JDW SNPsSNP Type Known SNPs Novel SNPs
Missense 8967 2421
Nonsense 44 5
Synonymous 9121 2261
UTR 18517 7102
Intron 922048 381924
Unexpected results
Ethical hurdles
Personalised genetic medicine