What data would you trust? – the results
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Course: Clinical Bioinformatics: Unlocking Genomics in Healthcare
Public Engagement your thoughts – the results
To view the results from the poll please go to Public Engagement Results
Bioinformation Resources
Below is a list of web resources you may find useful to refer to. Please take a look at some of the introductory pages e.g. FAQ’s, tutorial pages to give …
Introducing Standards and best practice
In this video, provided by the Manchester Centre for Genomic Medicine, Sanjeev discusses the importance standards and guidelines in ensuring high quality data.
Identifying variants
We asked Sanjeev about the steps that are taken to identify specific variants within the sequencing data for an autosomal recessive case. In the video provided by the Manchester Centre …
Information Sources
Sanjeev refers to a suite of conservation tools (PolyPhen and Sift) which weren’t specifically mentioned in week 3 as part of the clinical bioinformatician’s toolkit, let’s look at these in …
Designing the analysis pipeline
Within the video, provided by the Manchester Centre for Genomic Medicine, Sandy describes the process of aligning the individual short reads back to the human reference genome, and calling variants, …
Retinal Dystrophy Case
Earlier in the course we studied a case concerning two young boys with juvenile onset congenital cataract tested for using a gene panel approach designed to detect variants in genes …
Galaxy Tool Demonstration
Dr Michael Cornell, Clinical Bioinformatics Lecturer at University of Manchester, provides an in depth demonstration of the Galaxy tool. He will bring the workflow to life and will show how …
These articles are from the online course:
Clinical Bioinformatics: Unlocking Genomics in Healthcare