Loading alignment files to your desktop IGV (32.0+)

You can thoroughly review mapping visualization in desktop IGV, while interpreting the variant in emedgene. Moving between variants in the emedgene platform will also change the position on your desktop IGV.

Load to IGV is available for:

• FASTQ cases;

• VCF cases sent through API with alignment files* connected.

How to load alignment files to your desktop IGV:

1. Make sure that control from a web browser is enabled in the desktop IGV.

2. Make sure that IGV integration is enabled in the Desktop apps panel of the Variant page sidebar.

3. Open an IGV instance on your computer.

4. In the top right corner of the section, click Load to IGV to send alignment files* to IGV, which will automatically show the genomic region flanking the variant under review.

• BAM and BAI (or CRAM and CRAI)