Entering edit mode
4 months ago
nanibito
▴
10
Some basic, probably naive questions:
How can I create fresh VCF files (snp, indel, cnv) from an individual genomic sequence (fastq, ...) and the current reference genome?
If not done in the same step, how do I annotate this with ClinVar or Annovar and other public databases?
Are there standalone software packages for this?
I am also interested in correlating the genome with GWAS studies.
Many thanks for your help -- John
http://www.htslib.org/workflow.html
bcftools annotate
https://annovar.openbioinformatics.org/en/latest/user-guide/startup/
There are 1001 good tutorials for this. Google is your friend :-). Also please google your error messages.