This week, the CHILL lab decided to train several new volunteers on how to administer the POWWER game. Though the school year is almost up, the POWWER tests will continue over the summer. It's hard to believe I'm one of the "senior" members of the CHILL lab crew, but this week, I took several trainees out into the field where they could watch me administer the test. This training proved a little stressful as the new lab members were encouraged to take notes on my procedure. The entire time I hoped I was doing everything according to the rules. Set up the computer, wipe down the touch screen, properly start up the game. Never had there seemed to be so many steps to the POWWER game!
In the SLG lab, I worked on narrowing down the genes in question from an annotated file Dr. Peter received from a program called Seattle Sequence. This process meant copying and pasting all the abnormalities the lab had found in each gene thought to be related to speech and language. Then, I would delete any repeats or any genes with abnormalities other than a "missense" mutation. A missense mutation occurs when a single nucleotide meant to code for a protein changes and instead codes for a different type of amino acid. These mutations aren't the only ones, but because we had so many mutations to work with, Dr. Peter insisted we only study the "worst of the worst." The missense mutations.
This process took me three days to complete and resulted in a 2,000 line excel document in which I had lovingly selected each pertinent line. Next week, we narrow down the document even more, searching for the worst CADD (combined annotation dependent deletion) and polyPhen (polymorphism phenotyping) scores.
CADD scores reflect errors in insertions and deletions in the human genome and polyPhen scores represent the probability that a mutation will do damage, so as Dr. Peter said, we will continue to narrow down our huge list of genes to find the worst of the worst.
Have a good week!
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