Incorrectly identifies Mary as a non-carrier in testing
Closed this issue · 2 comments
Xyaneon commented
From Dr. Miller's email:
You have just shown that Mary is not a CF carrier. Perhaps your translation is wrong but maybe it will work better if you remember that Mary’s alleles are NOT in 3’ order.
Xyaneon commented
We need to update the test runs to compare the alleles against Human_CFTR_coding_sequence.fasta
as 5' coding strands.
Xyaneon commented
The problem is indeed in how we are presenting the sequences to Mutation Detector. When given as 5', it correctly identifies Mary as a cystic fibrosis carrier with the G551D amino acid sequence mutation in allele B. Updating test cases 7 through 12 for correct results.