NEIBank and EyeBrowse (a dedicated genome browser for eye-expressed genes, produced in collaboration with CIT. http://eyebrowse.cit.nih.gov/genome/)consitiute a resource for eye research worldwide. In the past year we have developed new informatics tools for functional analysis of RNA-seq data. We combine gene annotations from multiple sources with highly interactive data visualization. This greatly enhances the ease with which important patterns in the data can be discerned. We have applied this approach to expression data for our AMD-related models of retinal pigment epithelium serum starvation. We have also used our expertise in protein structure in a collaborative informatics analysis of disease related mutations in the ryanodine receptor 1 gene (RYR1)which cover many phenotypes including the ocular conditions ophthalmoplegia/paresis and ptosis.
| Todd, Joshua J; Sagar, Vatsala; Lawal, Tokunbor A et al. (2018) Correlation of phenotype with genotype and protein structure in RYR1-related disorders. J Neurol : |
| Liu, Yutao; Munro, Drew; Layfield, David et al. (2011) Serial analysis of gene expression (SAGE) in normal human trabecular meshwork. Mol Vis 17:885-93 |
| Bernstein, Steven L; Guo, Yan; Peterson, Katherine et al. (2009) Expressed sequence tag analysis of adult human optic nerve for NEIBank: identification of cell type and tissue markers. BMC Neurosci 10:121 |
| Jaworski, C J; Aryankalayil-John, M; Campos, M M et al. (2009) Expression analysis of human pterygium shows a predominance of conjunctival and limbal markers and genes associated with cell migration. Mol Vis 15:2421-34 |
| Simpanya, Mukoma F; Wistow, Graeme; Gao, James et al. (2008) Expressed sequence tag analysis of guinea pig (Cavia porcellus) eye tissues for NEIBank. Mol Vis 14:2413-27 |
