Discussions

In the past few months, I’ve been focusing on identifying inherited variants linked to rare disorders within small family cohorts. One of the challenges I keep running into is how difficult it is to contextualize those variants — not just in terms of known pathogenicity, but also their conservation, expression context, and occurrence across populations. Traditional variant calling pipelines are great at producing long lists, but interpreting those lists meaningfully still feels very manual and fragmented. I’d really like to hear what others are using for variant interpretation, especially when the goal is to understand how those variants behave in a genomic context, not just whether they’re found in a database. Has anyone found a good visual or integrative tool for this kind of analysis?