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zzhang526 / MosaicHunter

A tool to detect postzygotic single-nucleotide mosaicism from unpaired, trio, or paired samples.
http://mosaichunter.cbi.pku.edu.cn/
MIT License
11 stars 4 forks source link

MosaicHunter_Annotation tool #6

Open ngs1810 opened 3 years ago

ngs1810 commented 3 years ago

Hi. Is there any specific/compatible annotation tools that i could use apart from ANNOVAR to annotate outputs of MosaicHunter. I tried ANNOVAR, but, it does not seems to work with the output files of MosaicHunter, although i manually customise the inputs for ANNOVAR.

thank you

shishenyxx commented 2 years ago

Please find in the manual https://github.com/zzhang526/MosaicHunter/blob/master/docs/MosaicHunterUserGuide.pdf for details and make sure you reformat to chr pos . ref alt format. Some of the output columns by MosaicHunter is in major-minor.

You can also use VEP instead of ANNOVAR. But I still think the format is the problem.