williakd17

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I'm currently investigating this as well. Out of curiosity, how long does a given Exomiser run on an Exome take on your end?

Hey all, I'm currently looking for a homozygosity mapper/Loss of Heterozygosity caller and was wondering if this is still something you hope to incorporate into Exomiser? I really love the...

With Exomiser becoming more of a comprehensive tool (future CNV analysis, homozygosity mapping, etc.), I think that would make the most sense. From what I've experienced, it would make sense...

Can Exomiser handle a 3 generation family (daughter, mom, and grandma)? My current understanding of how a trio would be run is creating a ped file, merging the vcfs together,...

Has there been any update on this? Allowing vcfs to remain unmerged would be beneficial.