Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

@inproceedings{Akawi2015DiscoveryOF,
  title={Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families},
  author={Nadia Akawi and Jeremy McRae and Morad Ansari and Meena Balasubramanian and M. Wynter Blyth and Angela F. Brady and Stephen Clayton and Trevor R. P. Cole and Charu Deshpande and Tomas W. Fitzgerald and Nicola C. Foulds and Richard J. B. Francis and George Gabriel and Sebastian S Gerety and Judith A. Goodship and E. L. Hobson and Wendy D. Jones and Shelagh K. Joss and Daniel A. King and Nikolai T. Klena and Ajith Kumar and Melissa Lees and Christopher J Lelliott and Jenny Lord and Dominic J. McMullan and Mary E O'Regan and Deborah Osio and Virginia Piombo and Elena Prigmore and Diana Rajan and Elisabeth M Rosser and Alejandro Sifrim and Audrey Ursula Smith and Ganesh Jawahar Swaminathan and Peter Turnpenny and James Whitworth and Caroline F. Wright and Helen V. Firth and Jeffrey C. Barrett and Cecilia W. Lo and David R FitzPatrick and Matthew E. Hurles},
  booktitle={Nature Genetics},
  year={2015}
}
Discovery of most autosomal recessive disease-associated genes has involved analysis of large, often consanguineous multiplex families or small cohorts of unrelated individuals with a well-defined clinical condition. Discovery of new dominant causes of rare, genetically heterogeneous developmental disorders has been revolutionized by exome analysis of large cohorts of phenotypically diverse parent-offspring trios. Here we analyzed 4,125 families with diverse, rare and genetically heterogeneous… CONTINUE READING
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