Open jonathancrabtree opened 1 year ago
Another example from the chr22 callset:
chr22:33132512 |ALU |+ |100.0%| 97.2%| 97.5%| 95.2%| ATGTTGAATT [AGAAGTCATTATTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATC....+230bp....ACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA] AAAAGTCATTATTAGTATTTTTGTACTTAA
^ <---------polyA---------> ^
[ALU-------------------------- ----------------ALU>
In the following case a single base mismatch is preventing the TSD from being called, which in turn means that the polyT won't be found:
Two possible options to pursue here: