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