Question: Genotype Data And Exome Sequencing Data Sensitivity
2
gravatar for Liyf
7.6 years ago by
Liyf290
Liyf290 wrote:

I genotyped a sample by Illumina SNP array and I sequenced its exome sequencing data. What is the sensitivity of genotype calling from sequencing data? Is there already perl script?

exome genotyping sequencing • 2.5k views
ADD COMMENTlink written 7.6 years ago by Liyf290

So which one is more accurate - genotyping or sequencing?

ADD REPLYlink written 6.9 years ago by user56290
2
gravatar for Sean Davis
7.6 years ago by
Sean Davis25k
National Institutes of Health, Bethesda, MD
Sean Davis25k wrote:

You might want to look at these two tools:

http://vcftools.sourceforge.net/perl_module.html#vcf-compare

http://www.broadinstitute.org/gsa/wiki/index.php/VariantEval

ADD COMMENTlink written 7.6 years ago by Sean Davis25k

Many thanks. I will have a try.

ADD REPLYlink written 7.6 years ago by Liyf290

But I do not found how to download VariantEval, I think it will be fit for me.

ADD REPLYlink written 7.6 years ago by Liyf290

VariantEval is part of GATK. You will need to download the GATK software.

ADD REPLYlink written 7.6 years ago by Sean Davis25k
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