Project Contacts

For further information about this project, please contact:

• Mr Matthew Teasdale (matthew.teasdale@newcastle.ac.uk)
• Dr Rachel Queen (rachel.queen@newcastle.ac.uk)

Project Description

AIM: This work aims to discover regulatory regions of the genome that control optic fissure closure (OFC) genes in

developing chicken eyes to identify candidate non-coding loci for molecular diagnoses in human unsolved

coloboma patients.

OBJECTIVES: (1) Identify regulatory non-coding regions of the chicken genome that display dynamic chromatin

accessibility during optic fissure closure, and match these to specific cell types in the optic fissure. (2) Map optic

fissure closure regulatory regions to the human genome and perform variant analysis in patient DNA sequences to

identify plausible causative coloboma loci.

Software or Compute Methods

The data will be preprocessed using cellranger. We will use bioinformatics tools such as bamtools and bedtools study regions of the file. OnDemand will be used to run R analysis using libraries such as seurat, signac, SCENIC, tidyverse.