Whole Exome Sequencing for Characterization of Disease Causing Mutations in two Pakistani Families Suffering from Autosomal Recessive Ocular Disorders

We propose to use whole exome Agilent solution
probes and paired end Illumina sequencing to sequence 4 individuals
from two families suffering from novel autosomal recessive disease
[microphthalmia, MOP (OMIM %251600) and non-syndromic persistent
hyperplastic primary vitreous, PHPV (OMIM %611311)]. Selected
candidate variants will subsequently be genotyped in the remaining
family members in Pakistan with the aim of identifying the rare
homozygous recessive mutations responsible for the disease phenotype. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/EGA study EGAS00001000026