- Through Clinvar CLNSRCID, any others?
I could not find the data download link regarding variants from GTR?
I could not find the data download link regarding variants from GTR?
See http://www.ncbi.nlm.nih.gov/variation/docs/human_variation_vcf/#clinvar
This file contains variations submitted through clinical channels. The variations contained in this file are therefore a mixture of variations asserted to be pathogenic as well as those known to be non-pathogenic (see Note below). The user should note that any variant may have different assertions regarding clinical significance and that this file will contain only those that are the most "pathogenic".
You can use this file to fill the column ID of your VCF, with GATK for example
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