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Name
Egor Dolzhenko
Username
@egor-dolzhenko
Email
[email protected]
Description
The current FGF14 motifs
GAAGGAandGAAGAAGAAGAAGCAare one base away from a perfect GAA repeat. We recently reviewed a case where reads contained some sporadic C -> A mismatches, turning GAAs into GCAs. This had a significant impact on motif segmentation and made the repeat appear much more mosaic than it actually is. I wanted to suggest replacingGAAGGAandGAAGAAGAAGAAGCAmotifs withGGAandGCAto remove these segmentation ambiguities and reduce the risk of confusion. What do you think?