bioinformatics

Ocular coloboma (OC) is a failure of complete optic fissure closure during embryonic development and presents as a tissue defect along the proximal distal axis of the ventral eye. It is classed as part of the clinical spectrum of structural eye malformations with microphthalmia and anophthalmia, collectively abbreviated to MAC. Despite deliberate attempts to identify causative variants in MAC, many patients remain without a genetic diagnosis. To reveal potential candidate genes, we utilised transcriptomes experimentally generated from embryonic eye tissues derived from human, mouse, zebrafish, and chicken at stages coincident with optic fissure closure

Leveraging cutting-edge model systems to further understand CRB1-related eye disease

Cross species transcriptome analysis can be a powerful tool for identifying rare disease genes. By looking at the transcriptome of a variety of species, including humans, it is possible to identify genes that are differentially expressed in the diseased state. This can help to identify both disease-causing genes and genes that are involved in the disease process.

collaborative research with the Hearing and Sight GECIP at GEL

to evaluate and improve research practices.

The combination of abundant data resources and cheap sequencing technology has resulted in a vast unexploited resource for single nucleotide polymorphism (SNP) detection.

This protocol details the step-by-step procedures followed to process zebrafish retinal mRNA sequencing data generated by the SMARTSeq2 …

Make research data available to ensure transparency and a reliable scientific record.

Encourage collaboration between code users, developers and researchers.