search

Clinical-Genomics / MIP

Mutation Identification Pipeline. Read the latest documentation:
https://clinical-genomics.gitbook.io/project-mip/
MIT License
42 stars 10 forks source link

Suggestions #13

Closed robinandeer closed 10 years ago

robinandeer commented 10 years ago

See in which intron a variant is found. Should you have to go to IGV?

henrikstranneheim commented 10 years ago

With the next release of mip you will have the option to use the better hgvs annotation produced by vep cmp annovar (in addtion to snpeff and annovar) which will tell you which intron a variant is found. If you use the new vcfParser it will also be instantly obvious as "current_intron/Total_introns" in the transcript annotation. But of course from Scout you can go to any genomeBrowser.