Anne Goriely - Illumina

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755G mutation level (per million) Relative rate of mutation Apert mutation levels at position 755 1000 r = 0.39 4 Apert 755 levels in sperm DNA O/E 755 Apert fathers (n=52) 3 100 3 2 21 9 5 1 10 1 4 9 1 20 40 60 80 Age 0 50 Age Paternal age effect is explained by the levels of 755C>G mutations in sperm of normal men 0.1 Sperm (n=99) Blood (n=11) Why is Apert mutation so „common‟? <strong>Goriely</strong> et al Science (2003)
Copy-error hypothesis vs. selection? snp ** snp Mutation of interest Neutral model (copy-error) Selection model * * * * * * * * * * * * * * 50:50 distribution of the snp Skew of the snp distribution
Page 1 and 2: Ageing men, selfish testes and pate
Page 3 and 4: “Paternal age-effect” mutations
Page 5 and 6: Human spermatogenesis and copy-erro
Page 7 and 8: Selection of mutant sequences at FG
Page 9: Estimated level (per million) Recon
Page 13 and 14: Proportion on -112G Unequal distrib
Page 15 and 16: FGFR3 mutation in testicular tumour
Page 17 and 18: Clinical genetics of FGFR3 K650 cod
Page 19 and 20: Construction of the GAII libraries
Page 21 and 22: 3 lanes of 36-bp unidirectional GAI
Page 23 and 24: TD mutations in benign skin tumours
Page 25 and 26: HRAS mutations in cancer and Costel
Page 27 and 28: Goriely et al., Nat Genet, 2009 Str
Page 29 and 30: Are PAE mutations the tip of the ic
Page 31: Thanks to… WIMM (Oxford) Ruth Han

Anne Goriely - Illumina

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