SNP annotation with ANNOVAR
0
0
Entering edit mode
14 months ago
Eliza ▴ 30

Hi , i recently used ANNOVAR h19 to annotate SNPs . what i noticed that it didnt return the SIFT and Polyphen and MutationTaster for a large portion of exonic SNPs . for example this SNP :chr15-52233771-T-G . would be happy to know why, am I missing something? , I followed their guide when annotating my VCF . thank you

SIFT SNP annovar • 600 views
ADD COMMENT
0
Entering edit mode

which dataset is used ? I cannot see any hg19 exon using UCSC genome browser + gencode track, nor ucsc genes.

ADD REPLY
0
Entering edit mode

I used this command annotate_variation.pl -out ex1 -build hg19 example/ex1.avinput humandb/ but with my VCF as input and by default, --geneanno -dbtype refGene is assumed) -https://annovar.openbioinformatics.org/en/latest/user-guide/gene/

ADD REPLY

Login before adding your answer.

Traffic: 2676 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