Anne Goriely - Illumina

More documents

Recommendations

Info

Autism and parental age Grether et al, 2009 Does selfish PAE selection process contribute to the burden of mutations in complex disorders?
Are PAE mutations the tip of the iceberg of a more common mechanism generating genetic heterogeneity? How many „weakly‟ pathogenic mutations are selected in the ageing testis? Intergenerational spontaneous mutation rate = ~ 1.1 x10 -8 ~70 new mutations/diploid genome Paternal >> maternal contribution? Recurrent hits in PAE genes? Recurrent hits in genes of a given pathway such as GF-RAS-MAPK?
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 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: Goriely et al., Nat Genet, 2009 Str
Page 31: Thanks to… WIMM (Oxford) Ruth Han

Anne Goriely - Illumina

You also want an ePaper? Increase the reach of your titles

Delete template?

Save as template?