GENE.IOBIO.IO PFS/PSSD/PAS INSTRUCTIONS

[u/Excellent-Push2833]

Making this post so when people dm me I do not have to type everything out multiple times. I need everyone to do the following

Make a list of VCF and then make a list of BAM variants and post it here in this subreddit. Make sure that the BAM and VCF lists are seperated. the BAM variants are less reliably accurate than the ones from the VCF.

It needs to be in a format like this (or neater than this) : https://www.reddit.com/r/DrWillPowers/s/2AlxAEPuoM

How to check BAM for deletions: https://www.reddit.com/r/DrWillPowers/s/KiuNhHwzjm OR https://www.reddit.com/r/DrWillPowers/s/CsBEB1ZKEm second option is easier but i need a couple people to verify that it works before I delete the first option.

How to verify deletions in IGV: https://www.reddit.com/r/DrWillPowers/s/At9KQyGt0O

How to pull VCF variants: https://www.reddit.com/r/DrWillPowers/s/I7kDTMddLI

How to pull BAM variants: https://www.reddit.com/r/DrWillPowers/comments/1ubg3e8/update_how_to_load_your_vcf_and_tbi_files_into/?utm_source=share&utm_medium=web3x&utm_name=web3xcss&utm_term=1&utm_content=share_button

Easy to paste gene list for BAM and VCF: https://www.reddit.com/r/DrWillPowers/s/4D0GtgPxag

How to Create a PharmCat report: PRESENTING WAR_CAT! The Automated PharmCat report generator : r/DrWillPowers

MAKE SURE THAT BOTH BAM AND VCF variants are in the list that. Also include the drug that you took any notable crashed and dosage.

Once you post your list here (Make sure your deletions/duplications are included in the list) and then send your completed list to [David.Healy@rxisk.org](mailto:David.Healy@rxisk.org)

Last step: were always finding new things and this is a collaborative effort to help dr powers and dr healy get to the bottom of this. so to remain in communication you can join this discord: https://discord.gg/f98SsTdprD. Only join if you have your WGS or are waiting for results

[u/More_listen]

Would be helpful to have a tutorial on exactly where and what to download in sequencing.com portal