Pre-trained classifiers can be found here: https://drive.google.com/drive/folders/14llv-YqOWYKUykXUPozA0BdNXkBCxxcv?usp=sharing
Supplementary data containing DNM calls can be found here: https://docs.google.com/spreadsheets/d/1OSAlX-XnBzWZQrpzt_tfHd58Jhz6FqO05BBgrJUx4gI/edit?usp=sharing
usage:
_______ __ __ __ _ _______ __ __ ______ __ _ __ __
| || | | || | | || || | | || | | | | || |_| |
| _____|| |_| || |_| ||_ _|| |_| || _ || |_| || |
| |_____ | || | | | | || | | || || |
|_____ ||_ _|| _ | | | | || |_| || _ || |
_____| | | | | | | | | | | _ || || | | || ||_|| |
|_______| |___| |_| |__| |___| |__| |__||______| |_| |__||_| |_|
Version 0.1.0.1 Authors: Danny Antaki, Aojie Lian, James Guevara
Contact: j3guevar@ucsd.health.edu
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synthdnm -f <in.fam> -v <in.vcf.gz> [-oLgkVh]
necessary arguments:
-v, -vcf PATH VCF file
-f, -fam PATH PLINK pedigree (.fam/.ped) file
optional arguments:
-g --gen STR human reference genome version [default: hg38]
-h, --help show this message and exit
synthdnm.py: error: the following arguments are required: -v/--vcf, -f/--fam