I was recently notified of a fascinating project created by Ian Logan. It’s called the Minor Allele Program and can analyze raw data from 23andMe or Family Tree DNA. The program is available here:
If you need some test data, here is my latest raw data from 23andMe:
This is what the text output from the program looks like:
I asked Ian if there was anything he wanted to emphasize about the program, and he said:
“I think the first point to stress is that we are at the limit of the home computer; and the task of dividing the enormous Raw data file for the 900,000+ SNPs into 41 manageable chunks is a chore – but worthwhile.
Then, looking for ‘homozygous-recessive missense mutations’ is what the program is all about.
And, as an example of what could be found, I see in PubMed today that a further example of a missense change Q232K (glutamine to lysine) has been found to be pathological.
So if someone is homozygous recessive for an SNP that gives a missense change, such as Q<>K – it could be interesting.
(This change both introduces a negative-pole into a protein, and decreases flexibility – so it is perhaps not surprising it can cause pathology).”