2. Genetic Testing

In this video, provided by Manchester Centre for Genomic Medicine, Sanjeev Bhaskar Group Lead Clinical Bioinformatician at the Manchester Centre for Genomic Medicine describes the role of the bioinformatician and clinical genetic scientist in the analysis of this case.

He outlines the process of mapping all the short next generation sequencing reads to the human reference genome to piece the them back together and then how these reads are annotated to see where there are differences in comparison to the reference sequence. Finally he discusses how this data is then analysed and interpreted to determine which variant is likely to be responsible for causing the cataract in the two boys.