|  Help  |  About  |  Contact Us

Publication : Quantifying the contribution of recessive coding variation to developmental disorders.

First Author  Martin HC Year  2018
Journal  Science Volume  362
Issue  6419 Pages  1161-1164
PubMed ID  30409806 Mgi Jnum  J:319824
Mgi Id  MGI:6730545 Doi  10.1126/science.aar6731
Citation  Martin HC, et al. (2018) Quantifying the contribution of recessive coding variation to developmental disorders. Science 362(6419):1161-1164
abstractText  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 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 nonconsanguineous individuals, and that the role of noncoding variants, incomplete penetrance, and polygenic mechanisms need further exploration.
Quick Links:
 
Quick Links:
 

Expression

Publication --> Expression annotations

 

Other

3 Bio Entities

Trail: Publication

0 Expression