Dear community,
I am a bioinformatician in one clinic, but from the methods' development side. Recently out of curiosity I made a WGS analysis in one of the "sequencing-for-wellness" labs and I received some reports and got quite lost, and I am working in the field for ~6 years. So I imagined how it is for the ordinary customers and decided to write a series of blog posts with the guide how to understand the results. The final goal is to explain to people that
1) before consulting with the clinician no actions have to be taken,
2) everybody who has PC skills can check the overall quality of the results (having a lot of disk space, obviously) - and discard everything if the QC criteria were not met,
3) many "genetics-for-entertainment" things may be performed by hand without the need to order some reports from the companies,
4) it is not a rocket science and everybody can read their genomic data not as a horoscope, but with the clear understanding what means what.
Obviously, ordinary customer can not take a course in molecular biology / bioinformatics / statistics / other necessary sciences - they don't have time for that. So I decided to write a manual that will take 1 hour max of reading.
What do I want from you as from professionals, if you find the goals nice:
- propositions on methods for WGS analysis of 1 particular sample - it would be the best if the tools will have GUI, help with the interpretation of the findings (I am a clinical person and e.g. ancestry analysis - have never done)
- criticism of the written parts of the tutorial and especially links to the articles where the topics which are just slightly touched in the text are fully described.
If you find these goals bad in some sense - I want to know the criticism of the goals.
I would also like to ask help with the writing, but I doubt any of you will have time for that. But if you do - it will be great.
The parts that I already wrote (no bioinformatics there! only interpretation!):
https://medium.com/@german.m.demidov/how-to-analyse-your-own-dna-a-personal-experience-c4057d41753f https://medium.com/@german.m.demidov/how-to-analyse-your-own-dna-a-point-of-view-of-ordinary-customer-part-i-226284ba9466
Next parts will be: 1) how to read your medical report;
2) how to perform QC of samples (from BAM files) and QC of variants (which variants may be artefacts)
3) genomics for entertainment: ancestry, funny associations from GWAS, etc..
4) opinion of genomic data analysis experts on my analysis (optional - if I found them)
Any help would be appreciated! I will credit everybody who will do something in the corresponding places of the document (or we can make an authors' list).
PS: there are some posts like this, e.g., https://apeltzer.github.io/post/02-dante-wgs/ - however it is heavy to read for a non specialist
