Anne Goriely - Illumina

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Tailoring Next-Gen Sequencing throughput Depth of coverage 1 x10 6 X Whole genome sequencing Ultra rare point mutation 10 10 X 1 x10 6 Genome size Study of Paternal Age-Effect mutations in human sperm
“Paternal age-effect” mutations and associated disorders Spontaneous dominant disorders Specific point mutations (GOF mutations) 100-1000x more common than background Exclusive (or near-) paternal origin and Paternal age-effect (~ 2-5 years older than average) 1. FGFR2 (Apert, syndrome, Pfeiffer, Crouzon Pfeiffer, syndromes) Crouzon syndromes 2. FGFR3 (achondroplasia, (thanatophoric dysplasia, Muenke syndrome, achondroplasia, thanatophoric Muenke) dysplasia) 3. HRAS (Costello syndrome) PTPN11 (Noonan syndrome) RET (Men2a,2b)
Page 1: Ageing men, selfish testes and pate
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 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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