At a Glance
Genomic Variants: Innocent Until Proven Guilty
Category: Videos Tags: Communicating genomics, Data, Rare inherited disease, Research, Teaching genomics
Typically, genomic analysis will focus on particular parts of the genome known to have an impact on health. But what happens when a variant is discovered that appears causative but lacks sufficient evidence? Here, consultant clinical geneticist Dr Richard Scott discusses the challenges presented by genetic variants of unknown significance.
This film forms part of our Clinical Genetics in Action series, created in collaboration with the Royal College of Physicians.
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