It was painfully easy for me to find my PNP deficiency.
- I had my genome run my 23andme (twice).
- I plugged the raw data into https://promethease.com/.
- I sorted it by frequency.
- Then just researched every rare polymorphism.
It would be so simple to write an algorithm that does this.
I found my own genetic condition this way. hEDS/clEDS from a TNXB mutation. I already had a strong indication that I had this by noticing rare behavior about myself was similar to other people with TNXB mutations. DNA sequence confirmed it. The vast majority people with this condition will never get a positive diagnoses from a doctor no matter how many they see, but it’s clear as day right there in the DNA.
- I had my genome run my 23andme (twice). - I plugged the raw data into https://promethease.com/. - I sorted it by frequency. - Then just researched every rare polymorphism.
It would be so simple to write an algorithm that does this.