{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"technology_type":["Illumina Genome Analyzer II"],"study_type":["Other"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001000026"],"host":["EGA"],"description":["EGA study EGAS00001000026"],"dataset_title":["Whole Exome Sequencing for Characterization of Disease Causing Mutations in two Pakistani Families Suffering from Autosomal Recessive Ocular Disorders."],"repository":["EGA"],"category":["restricted"],"name_synonyms":["other disease, WES, Complete Transcriptome, human disease, Complete, Complete Transcriptome Sequencing, Exome Sequencings, Complete Exome Sequencings, Complete Exome, Complete Exome Sequencing, Whole Transcriptome Sequencing, Exome, disorders, medical condition, Sequencing, non-neoplastic, Mutations, disease, Exome Sequencing, Whole Exome, diseases, Whole, Whole Exome Sequencing, Diseases, disease or disorder, condition, disorder, diseases and disorders, Homo sapiens disease, Whole Transcriptome, Transcriptome Sequencing, Transcriptome Sequencings, non-neoplastic."],"description_synonyms":["Networks, Genetic Data, Kinship, Nucleotide Sequencing, AGTBP, PhrB photolyase activity, HSN1E, Persistent Fetal Vasculature Syndrome, Massively-Parallel, Genetic Information Databases, Persistent fetal vasculature syndrome, pigmented epithelium, Mutations, Publication., High-Throughput RNA Sequencing, diseases, Life Cycle, diseases and disorders, 3, NUP96, epithelium, Persistent tunica vasculosa lentis, AORDd, Deep Sequencing, Family Life Cycle, M-OR-1, Bank, human disease, Kinship Network, Illumina Sequencing, Genetic Data Bases, pigmented retina, Genetic Data Banks, Persistent fetal vasculature, Banks, DNA cyclobutane dipyrimidine photolyase activity, SUPPRESSOR OF AUXIN RESISTANCE 3, High Throughput RNA Sequencing, Genetic Information Database, Persistent Hyaloid Vasculature, Homo sapiens disease, Sequence Databases, Family Life Cycles, CXXC finger protein 9, High-Throughput RNA, sfv, PRE, aldehyde oxidoreductase activity, deoxyribonucleic cyclobutane dipyrimidine photolyase activity, High-Throughput DNA Sequencing, microphthalmos, Genetic Sequence Databases, nanophthalmos, Sequence Database, Ion Torrent Sequencing, Online Mendelian Inheritance In Man, retinal pigment, Massively-Parallel Sequencing, Diseases, Next-Generation, dipyrimidine photolyase (photosensitive), Ion Torrent, Persistent Hyaloid Artery, Filiation, END, retinal pigment layer, Microphthalmia, ADCADN, Data Bank, UNQ203/PRO229, DNA (cytosine-5-)-methyltransferase 1, Data Bases, Data Banks, High Throughput Sequencing, Life Cycles, Phenotypes, disease, phr A photolyase activity, Genetic Data Base, DNA-photoreactivating enzyme, EP24.16, MOP, Mop, MOR, Mor, Information Databases, MOR-1, Genetic Information, Persistent posterior fetal fibrovascular sheath of the lens, Persistent hyperplasia of primary vitreous, whole exome, other disease, High Throughput DNA Sequencing, LMOR, Family Member, High-Throughput DNA, PFVS, Network, Database, Persistent Hyaloid Vasculatures, photoreactivating enzyme activity, Illumina, Next-Generation Sequencing, Aim, AIM, Genetic Databases, Publication, aldehyde:acceptor oxidoreductase (FAD-independent) activity, Deep, Genetic Databanks, disease or disorder, stratum pigmentosa retinae, persistent fetal vasculature syndrome, Massively Parallel Sequencing, Islamic Republic of Pakistan, DNMT1, MOS3, Ion Proton Sequencing, deoxyribocyclobutadipyrimidine pyrimidine-lyase activity, Genetic, CG9311, DNMT1_HUMAN, PRECOCIOUS, Research, Genetic Data Bank, Persistent Hyaloid Arteries, persistent hyperplastic primary vitreous, F23A5.3, Pyrosequencing, recessive hereditary disorder (autosomal), Sequencing, Solution, congenital retinal detachment, non-neoplastic, API6, MOR1, Genetic Database, Genetic Sequence, High-Throughput, RNA Sequencing, disorder, non-syndromic congenital retinal non-attachment, Kinship Networks, Family, HHT1, F23A5_3, DNA MTase HsaI, DNA (cytosine-5)-methyltransferase 1, Databank, Edg, Family Research, DNMT, disorders, medical condition, MCMT, Family Members, MODIFIER OF SNC1, OMIM, Mu opioid receptor, DNA Sequencing, DNA methyltransferase HsaI, deoxyribonucleic photolyase activity, sequence, Congenital retinal septum, condition, Mu opiate receptor, rare (European definition), hMOP, MEP, Information Database, Data Base, Next Generation Sequencing, CXXC9, Databanks, RPE, CT-2, Genetic Databank, ncRNA disease, photolyase activity, Databases, Oprm, DmelCG9311, PHPV, Persistent hypertrophic primary vitreous, CXXC-type zinc finger protein 9, primary structure of sequence macromolecule, p. pigmentosa retinae, High-Throughput Sequencing, Families, Genetic Sequence Database, High Throughput Nucleotide Sequencing, deoxyribonucleate pyrimidine dimer lyase (photosensitive), Persistent hyperplastic primary vitreous, ORW1, OPRM, Ion Proton, Relatives, CLEC2C, High-Throughput Nucleotide, m.HsaI"],"additional_accession":[]},"is_claimable":false,"name":"Whole Exome Sequencing for Characterization of Disease Causing Mutations in two Pakistani Families Suffering from Autosomal Recessive Ocular Disorders ","description":"We propose to use whole exome Agilent solution\nprobes and paired end Illumina sequencing to sequence 4 individuals\nfrom two families suffering from novel autosomal recessive disease\n[microphthalmia, MOP (OMIM %251600) and non-syndromic persistent\nhyperplastic primary vitreous, PHPV (OMIM %611311)]. Selected\ncandidate variants will subsequently be genotyped in the remaining\nfamily members in Pakistan with the aim of identifying the rare\nhomozygous 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/","dates":{"updated":"2021-04-23 20:10:07"},"accession":"EGAS00001000026","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAD00001000024","EGAC00001000205"]}}