Ilya Pletenev

Results 2 issues of Ilya Pletenev

It seems that `read_pathogenic_site` function expects 6th column to store score codes (0-4): https://github.com/JiguangPeng/autopvs1/blob/7fb1be97667e5ef576f81bf2fabbddcf9a4c7594/utils.py#L169-L197 while `data/clinvar_pathogenic_GRCh38.vcf` seems to have this score code at column 15, not 6. First lines of...

Dear AutoPVS1 developers, thank you for this great and unique tool. Could you please update the files in the `data` directory, such as `clinvar_pathogenic_GRCh38.vcf`, `exon_lof_popmax_hg38.bed`, etc., using the latest versions...