Hi all I'M currently performing my first exome sequencing analysis following the GATK pipeline, at this moment I have ended the VQSR and have a final VCF file ... however the question is what is next. (all this performedusing as reference the hg19 genome)
in the web appear 3 options
BEAGLE
SNPeff
Annovar
I use SNPeff using this code:
java -jar snpEff.jar eff -c snpEff.config -v hg19 -o gatk SNP_INDELS_Recalibrated.vcf > SNPeff_final.vcf
when start the run the program selects several variants but also appear this message "Skipping malformed SnpEff effect field....."
I dont know if is due to loss of compatibility or other thing.
After that I've runned the GATK VariantAnnotator and appear a new VCF file ... is this method correct?. Its only one single sample so cant do an analysis with pedigree.
What tool do you recommend? how interprete this data. and how obtain a reliable output maybe an Excel file or other class.
Thanks for your help
in the web appear 3 options
BEAGLE
SNPeff
Annovar
I use SNPeff using this code:
java -jar snpEff.jar eff -c snpEff.config -v hg19 -o gatk SNP_INDELS_Recalibrated.vcf > SNPeff_final.vcf
when start the run the program selects several variants but also appear this message "Skipping malformed SnpEff effect field....."
I dont know if is due to loss of compatibility or other thing.
After that I've runned the GATK VariantAnnotator and appear a new VCF file ... is this method correct?. Its only one single sample so cant do an analysis with pedigree.
What tool do you recommend? how interprete this data. and how obtain a reliable output maybe an Excel file or other class.
Thanks for your help
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