Regarding ClinVar's VCF file
0
0
Entering edit mode
4 weeks ago

I was having a look at the ClinVar VCF file with the intent to make a disease-gene association matrix. For that purpose, I wanted to focus only on pathogenic/likely pathogenic variants. But the problem I am facing is that in case of conflicting associations in the CLNSIGCONF field, the values of the field are not listed in the same order as the order of the diseases in CLNDN field. I wanted to ask if there is any way I can get 1:1 association between the two such that I get to know if the variant is benign with respect to a disease and likely benign or pathogenic with respect to another?

matrix disease vcf clinvar gene • 235 views
ADD COMMENT
1
Entering edit mode

the vcf is kind of an artificially assembled convenience file. have you looked at the variant_summary here: https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/

ADD REPLY

Login before adding your answer.

Traffic: 3427 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6