Quantifying the contribution of recessive coding variation to developmental disorders

@article{Martin2018QuantifyingTC,
  title={Quantifying the contribution of recessive coding variation to developmental disorders},
  author={Hilary C Martin and Wendy D Jones and Rebecca E. McIntyre and Gabriela S{\'a}nchez-Andrade and Mark E Sanderson and James D Stephenson and Carla P Jones and Juliet Handsaker and Giuseppe Gallone and Michaela Bruntraeger and Jeremy F McRae and Elena Prigmore and Patrick Short and Mari Niemi and Joanna Kaplanis and Elizabeth J Radford and Nadia Akawi and Meena Balasubramanian and John Dean and Rachel O. Horton and Alice Hulbert and Diana Sherice Johnson and Katie Johnson and Dhavendra Kumar and Sally Ann Lynch and Sarju G Mehta and Jude S. Morton and Michael Parker and Miranda Splitt and Peter D Turnpenny and Pradeep C. Vasudevan and Michael Wright and Andrew R Bassett and Sebastian S Gerety and Caroline F. Wright and David R. FitzPatrick and Helen V. Firth and Matthew E. Hurles and Jeffrey C. Barrett},
  journal={Science},
  year={2018},
  volume={362},
  pages={1161-1164}
}
We estimated the genome-wide contribution of recessive coding variation in 6040 families from the Deciphering Developmental Disorders study. The proportion of cases attributable to recessive coding variants was 3.6% in patients of European ancestry, compared with 50% explained by de novo coding mutations. It was higher (31%) in patients with Pakistani ancestry, owing to elevated autozygosity. Half of this recessive burden is attributable to known genes. We identified two genes not previously… CONTINUE READING
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Genetics of autosomal recessive intellectual disability

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  • 2018
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