BrainDiseaseVariantCaller is a pipeline for selecting brain disease related germline variants from a alignment file.
BrainDiseaseVariantCaller currently covers Alzheimer's Disease, Autism, Dystonia, Parkinson's Disease, Epliepsy, Stroke, brain cancers, and is contantly updated along with BrainBase database.
- Requirement:
- Linux
- Python 2.7 or higher
- GATK 4.0 or higher
- VEP
To run the pipeline :
-
Edit mandatory paths on the BrainDiseaseVariantCaller.sh
-
Run BrainDiseaseVariantCaller.sh
sh BrainDiseaseVariantCaller.sh [INPUT.bam]
This research was supported by a grant of the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI), funded by the Ministry of Health & Welfare, Republic of Korea (grant number : HI16C-1986).