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

ABSTRACT: 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/

PROVIDER: EGAS00001000026 | EGA |

REPOSITORIES: EGA