The 100,000 genomes project and you - Newcastle University · The 100,000 genomes project and you...
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The 100,000 genomes project and you Patrick Chinnery Institute of Genetic Medicine
Transcript of The 100,000 genomes project and you - Newcastle University · The 100,000 genomes project and you...
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The 100,000 genomes project and youPatrick Chinnery
Institute of Genetic Medicine
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Gregor Mendel1822-1884
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Human chromosomes
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“Junk” DNA
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Year 2000 = $3Billion
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Gordon E Moore 1965
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Rare diseases
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December 2012
• Rare diseases• Infection• Cancer
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Newcastle recruitment - December 2014
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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
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Unexpected results
Ethical hurdles
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Personalised genetic medicine
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