Entering edit mode
6.0 years ago
shimonabiswas
•
0
Hi folks, I have just begun looking at vcf annotated files, from whole exome sequencing (snps and indels mostly). Vcf files show SPV=n / DP=n; what do these numeric values indicate?
Also I have some descriptions with each SNP - "modifier", "moderate", "high" and "low". What do these terms indicate?
All explanations welcome!
Thanks h.mon! not sure but maybe samtools for variant calls. Here are some examples
missense_variant MODERATE synonymous_variant LOW intron_variant MODIFIER sequence_feature LOW stop_gained HIGH
not sure what "modifier" indicates, eg row 3 intron variant should really have no modification effect at transcript/ protein levels.