Hello. I have performed the bioinformatics analysis of my exome sequencing samples on your platform. At the last stage, I analyzed the autosomal recessive inheritance pattern in the GEMINI INHERITANCE PATTERN section on GEMINI. I see it as never seen before. I see this in gnomad and exac data. Since homozygosity is important in the recessive inheritance pattern, the variations mislead me. What do I need to do for this? What kind of a problem might be experienced while extracting data from databases?
This is a BIG question!
Consider starting out with some tutorials to learn more about how to use Gemini and related tools for variant analysis. These include sample data, reference data, and workflows with both scientific and relevant technical explanations and resources.
Tutorials can be searched with keywords or navigated by analysis domain.
- Variant Analysis Galaxy Training!
The Galaxy Training Network happens to be hosting a training event all this week. It isn’t too late to join, and all the materials are always available even outside of events. The program is a choose-your-own adventure but also has suggested knowledge tracks that all fit together. All the GTN scientific tutorials are included. You could join and review what is going on in the dedicated chat spaces to decide if it is good fit for you.
Smörgåsbord 3: A week of Free, Online, Galaxy Training supported by the Global Galaxy Training Community