28 research outputs found
The Potential Role of the ZIKV NS5 Nuclear Spherical-Shell Structures in Cell Type-Specific Host Immune Modulation during ZIKV Infection
10.3390/cells8121519Cells81
Subclinical autonomic dysfunction in patients with Hodgkin's disease and non-Hodgkin's lymphoma
Effect of copper content on mechanical properties and fracture behaviors of Al-Li-Cu alloy
SiC particle cracking in powder metallurgy processed aluminum matrix composite materials
The Transition from A Priori to A Posteriori Information: Bayesian Procedures in Distributed Large-Scale Data Processing Systems
Are cardiovascular reflexes more commonly impaired in patients with bronchial carcinoma?
Quantifying the contribution of recessive coding variation to developmental disorders.
We estimated the genome-wide contribution of recessive coding variation from 6,040 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 to 50% explained by de novo coding mutations. It was higher (31%) in patients with Pakistani ancestry, due to elevated autozygosity. Half of this recessive burden is attributable to known genes. We identified two genes not previously associated with recessive developmental disorders, KDM5B and EIF3F, and functionally validated them with mouse and cellular models. Our results suggest that recessive coding variants account for a small fraction of currently undiagnosed non-consanguineous individuals, and that the role of noncoding variants, incomplete penetrance, and polygenic mechanisms need further exploration