Anne Goriely - Illumina

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Quantifying Apert mutations in sperm Genomic DNA + - Spike DNA MboI digestion wt mutant 661bp 543bp 118bp PCR amplification of MboI-resistant fragment MboI digestion 2 nd set of PCR with nested primers Greatly enriched mixture of MboI-resistant fragments How to quantify it?? Pyrosequencing <strong>Goriely</strong> et al Science (2003)
Estimated level (per million) Reconstitution experiment 1000 100 Apert birth rate 10 -5 10 1 Apert DNA 1 Apert DNA 2 10 μg of blood DNA + 755 Apert genomic DNA 10 -6 -> 3.10 -4 ± Spike DNA (GR triple mutant) 0.1 0 1 10 100 1000 Expected level (per million) (input) Pyrosequencing adequately quantifies Apert mutation
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: Selection of mutant sequences at FG
Page 11 and 12: Copy-error hypothesis vs. selection
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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