{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Aryal S"],"funding":["National Center for Research Resources","National Eye Institute","NEI NIH HHS","NCRR NIH HHS","NCI NIH HHS","National Institutes of Health","National Institute of General Medical Sciences","NIH HHS","NIGMS NIH HHS"],"pagination":["151-184"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6983357"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["139(2)"],"pubmed_abstract":["While the bioinformatics resource-tool iSyTE (integrated Systems Tool for Eye gene discovery) effectively identifies human cataract-associated genes, it is currently based on just transcriptome data, and thus, it is necessary to include protein-level information to gain greater confidence in gene prioritization. Here, we expand iSyTE through development of a novel proteome-based resource on the lens and demonstrate its utility in cataract gene discovery. We applied high-throughput tandem mass spectrometry (MS/MS) to generate a global protein expression profile of mouse lens at embryonic day (E)14.5, which identified 2371 lens-expressed proteins. A major challenge of high-throughput expression profiling is identification of high-priority candidates among the thousands of expressed proteins."],"journal":["Human genetics"],"pubmed_title":["MS/MS in silico subtraction-based proteomic profiling as an approach to facilitate disease gene discovery: application to lens development and cataract."],"pmcid":["PMC6983357"],"funding_grant_id":["S10 RR027273","S10OD-012246","P20 GM103446","P30 CA069533","P30 EY010572","R01 EY021505","R01 EY029770","S10 OD012246"],"pubmed_authors":["David LL","Aryal S","Hernandez FG","Huang H","Wilmarth PA","Anand D","Reddy AP","Weatherbee BAT","Lachke SA"],"additional_accession":[]},"is_claimable":false,"name":"MS/MS in silico subtraction-based proteomic profiling as an approach to facilitate disease gene discovery: application to lens development and cataract.","description":"While the bioinformatics resource-tool iSyTE (integrated Systems Tool for Eye gene discovery) effectively identifies human cataract-associated genes, it is currently based on just transcriptome data, and thus, it is necessary to include protein-level information to gain greater confidence in gene prioritization. Here, we expand iSyTE through development of a novel proteome-based resource on the lens and demonstrate its utility in cataract gene discovery. We applied high-throughput tandem mass spectrometry (MS/MS) to generate a global protein expression profile of mouse lens at embryonic day (E)14.5, which identified 2371 lens-expressed proteins. A major challenge of high-throughput expression profiling is identification of high-priority candidates among the thousands of expressed proteins.","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Feb","modification":"2026-04-07T23:04:23.959Z","creation":"2021-02-21T05:14:01Z"},"accession":"S-EPMC6983357","cross_references":{"pubmed":["31797049"],"doi":["10.1007/s00439-019-02095-5"]}}