MS/MS in silico subtraction-based proteomic profiling as an approach to facilitate disease gene discovery: application to lens development and cataract

• Published in: Human genetics Vol. 139; no. 2; pp. 151 - 184
• Main Authors: Aryal, Sandeep, Anand, Deepti, Hernandez, Francisco G., Weatherbee, Bailey A. T., Huang, Hongzhan, Reddy, Ashok P., Wilmarth, Phillip A., David, Larry L., Lachke, Salil A.
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.02.2020; Springer Nature B.V
• Subjects: Animals; Bioinformatics; Biomarkers - metabolism; Biomedical and Life Sciences; Biomedicine; Cataract - genetics; Cataract - metabolism; Cataract - pathology; Cataracts; Comparative analysis; Computational Biology; Computer Simulation; Embryos; Eye Proteins - genetics; Eye Proteins - metabolism; Gene expression; Gene Expression Profiling; Gene Function; Genes; Homeostasis; Human Genetics; Humans; Lens, Crystalline - embryology; Lens, Crystalline - metabolism; Mass spectroscopy; Metabolic Diseases; Mice; Mice, Inbred C57BL; Molecular Medicine; Original Investigation; Proteins; Proteome - analysis; Proteome - metabolism; Proteomes; Tandem Mass Spectrometry - methods; Transcriptome

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 pr...