Open jtdendunnen opened 6 years ago
According to mutalyzer the description is [127T>G;133T>G]
. This is indeed incorrect. Running the VDE locally gives me:
0--126, 0--126, 1, 0, 0--0
126--127, 126--127, 4, 5, 0--0
127--132, 127--132, 1, 0, 0--0
132--133, 132--174, 9, 5, 135--177
132--133, 174--175, 20, 1, 0--0
133--280, 175--322, 1, 0, 0--0
The variants indicated with type 9 and type 20 seem to be missing (this is a transposition structure). Probably something that is not yet covered in describe.py
. We should look into that.
using the VDE with ReferenceSeq: TCCATCCCAGCGCTCCCAGCTGGAGGCCTATTCCACTCTGCTGGCCAACATGGGCAGTCTGAGCCAGACGCCGGGACACAAGGCTGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCATCAGCATCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCACCTCAGCAGGGCTCCGGGGCTCATCACCCCGGGGTCCCCCCCACCAGCCCAGCAGAACCAGTACGTCCACATTTCCAGTTCTCCGCAGAACACCGGCCGCACC and SampleSeq: TCCATCCCAGCGCTCCCAGCTGGAGGCCTATTCCACTCTGCTGGCCAACATGGGCAGTCTGAGCCAGACGCCGGGACACAAGGCTGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCACCTCAGCAGGGCTCCGGGGCTCATCACCCCGGGGTCCCCCCCACCAGCCCAGCAGAACCAGTACGTCCACATTTCCAGTTCTCCGCAGAACACCGGCCGCACC
I get a description which is not correct. The sequence GCA[12]TCAGCATCA[1]GCA[14] changes to GCA[43]. Please check what goes wrong.