Author : Krutik Patel <Krutik.Patel@newcastle.ac.uk>
Maintaner : Krutik Patel <Krutik.Patel@newcastle.ac.uk>
City : Newcastle University, UK
Institute : Faculty of Medical Sciences
About the author : Bioinformatician working on CNV detection and analysis pipelines for use in unsolved patients. We have 100s of undiagnosed patients from various cohorts which have not been analysed by structural variant analysis. The SARC tool is a means to reduce the labour of our clinical and diagnostic staff when performing variant interpretation.
