Quantifying the contribution of recessive coding variation to developmental disorders
Hilary C. Martin, Wendy D. Jones, Rebecca E. McIntyre, Gabriela Sánchez-Andrade, Mark Sanderson, James D. Stephenson, Carla P. Jones, Juliet Handsaker, Giuseppe Gallone, Michaela Bianka Bruntraeger, Jeremy F. McRae, Elena Prigmore, Patrick Short, Mari Niemi, Joanna Kaplanis, , on behalf of the Deciphering Developmental Disorders Study
The paper estimates the contribution of recessive coding variants to developmental disorders using exome data from 7,448 families, finding low prevalence in European ancestry but higher in Pakistani ancestry.
Science · Nov 8, 2018Peer-reviewedGenetics