Anne Goriely - Illumina

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<strong>Illumina</strong> sequencing accurately quantifies mutation levels <strong>Goriely</strong> et al, Nat Genet, 2009
3 lanes of 36-bp unidirectional GAII sequencing No spike ACGT--- AGTC--- GATT--- TGCA--- TGCA--- GTTC--- TGAC--- GGTA--- ACCT--- GAAT--- AACT--- GACC--- GGTT--- TTGT--- AATG--- ACCT--- AGCT--- AGGC--- AGCC--- ..... 112X Spike @ 1:100,000 ACGT--- AGTC--- GATT--- TGCA--- TGCA--- GTTC--- TGAC--- GGTA--- ACCT--- GAAT--- AACT--- GACC--- GGTT--- TTGT--- AATG--- ACCT--- AGCT--- AGGC--- AGCC--- ..... 112X Spike @ 1:10,000 ACGT--- AGTC--- GATT--- TGCA--- TGCA--- GTTC--- TGAC--- GGTA--- ACCT--- GAAT--- AACT--- GACC--- GGTT--- TTGT--- AATG--- ACCT--- AGCT--- AGGC--- AGCC--- ..... 112X 3 x 10μg of starting DNA for each sperm sample analysed ( = 10 million DNA copies) After filtering, total of 3.10 6 – 6.10 6 tagged sequences per lane each lane provides ~40,000 (30,000-60,0000) reads per sample Allowing a large dynamic range of mutation quantification
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 and 10: Estimated level (per million) Recon
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: Construction of the GAII libraries
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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