Prevalence and architecture of de novo mutations in developmental disorders

@inproceedings{Rahbari2017PrevalenceAA,
  title={Prevalence and architecture of de novo mutations in developmental disorders},
  author={Rahbari and R. E. Gillian and Rosser Alison and Saggar Elisabeth and Samant Anand and Sampson Shalaka and Julian Roy and Ajoy Dey Sarkar and Schweiger and S. Ann and Sequeira Anneke and Shannon Cheryl and N{\'o}ra and Ganesh Jawahar and Wakeling Julie and Wallwark Emma and Waters Sarah and Weber Jonathon and Wellesley Astrid and Whiteford Diana and Widaa Margo and Wilcox Sara and Woods Louise and Wragg Geoff and W H Davies Christopher and Y Michael},
  booktitle={Nature},
  year={2017}
}
The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here we have sequenced the exomes of 4,293 families containing individuals with developmental disorders, and meta-analysed these data with data from another 3,287 individuals with similar disorders. We show that the most important factors influencing the diagnostic yield of DNMs are the sex of the affected individual, the relatedness… CONTINUE READING

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