Contextualising human missense variation with ProtVar

Genomic variation can impact normal biological function in complex ways and so understanding variant effects requires a broad range of data to be coherently assimilated.

ProtVar is a new, updated and maintained human variant annotation and assessment web tool which offers users unparalleled flexibility and ease of accessibility and integration. It combines data and analyses from a plethora of resources to bring together genomic, protein sequence, functional as well as structural insights and predictions to better understand the potential effects of missense variation on humans.

This webinar will cover the variety of data types which can be used to access ProtVar and the ways in which such data can be submitted. It will also coverthe annotation and prediction types available, as well as thevisualisations available and the methods by which data can beretrieved.

Who is this course for?

This webinar is suitable for anyone interested in contextualising and interpreting human missense variation, for example geneticists, e.g. those researching rare diseases, drug designers investigating the effect of variation on targets, clinical geneticists diagnosing developmental disorders, protein functional/structural biologists or synthetic biologists redesigning enzymes.No prior knowledge of bioinformatics is required, but undergraduate level knowledge of biology would be useful.

Outcomes

By the end of the webinar you will be able to:

• access ProtVar in various ways with different data types
• explore the many types of annotations and predictions available in ProtVar
• visualise and retrieve the information which is most useful to you