/annovar_for_spliceai_exome

SpliceAI Exome Annotation Using Annovar

Primary LanguagePerl

ADD SpliceAI Annotation to Annovar

WHAT DOES IT DO

annotate spliceai_exome to vcf using annovar, variants with more than one records would be splited into multiple lines.

PREREQUISITE

Usage

  • splice_exome vcf to annovar db bed, and build index
python convert_spliceai_vcf_to_annovar_db.py <spliceai_exome_vcf> <annovar_db_bed>
perl compile_annovar_index.pl <annovar_db_bed> <bin_size> > <annovar_db_bed.idx>

bin_size recommended: 1000 chromosome should be "1,2..,X,Y"

  • annote using annovar
perl table_annovar.add_spliceai_exome.pl <avinput> <annovar_db> -buildver hg19 -out <outprefix> -protocol <spliceai_exome_db_name> -operation f -nastring . -csvout -polish