I have found some issues with the build 38 version of LOFTEE – that I would like to know if you are aware of:
The first regards the END_TRUNC filter the cut off for GERP_DIST has changed from 180 to -58 – I would like to know why this change has been made – github submission is here.
The second regards splice-site related filters – it looks like this functionality has been turned off in build 38 – github submission is here.
Are these changes known about? How are splice-site related filters handled in build38?
Thanks,
Chris Grace
Bioinformatician
PROCARDIS Group
Centre for Human Genetics
Roosevelt Drive, Oxford, OX3 7BN, United Kingdom