The current GATK version is 3.7-0
Examples: Monday, today, last week, Mar 26, 3/26/04

#### Howdy, Stranger!

It looks like you're new here. If you want to get involved, click one of these buttons!

You can opt in to receive email notifications, for example when your questions get answered or when there are new announcements, by following the instructions given here.

#### ☞ Got a problem?

1. Search using the upper-right search box, e.g. using the error message.
3. Include tool and Java versions.
4. Tell us whether you are following GATK Best Practices.
5. Include relevant details, e.g. platform, DNA- or RNA-Seq, WES (+capture kit) or WGS (PCR-free or PCR+), paired- or single-end, read length, expected average coverage, somatic data, etc.
6. For tool errors, include the error stacktrace as well as the exact command.
7. For format issues, include the result of running ValidateSamFile for BAMs or ValidateVariants for VCFs.
8. For weird results, include an illustrative example, e.g. attach IGV screenshots according to Article#5484.
9. For a seeming variant that is uncalled, include results of following Article#1235.

#### ☞ Formatting tip!

Wrap blocks of code, error messages and BAM/VCF snippets--especially content with hashes (#)--with lines with three backticks ( ` ) each to make a code block as demonstrated here.

Picard 2.10.4 has MAJOR CHANGES that impact throughput of pipelines. Default compression is now 1 instead of 5, and Picard now handles compressed data with the Intel Deflator/Inflator instead of JDK.
GATK version 4.beta.2 (i.e. the second beta release) is out. See the GATK4 BETA page for download and details.

# De novo quality scores

Member

Hello,

I was just wondering if anyone uses GATK's SelectVariants walker to call de novo mutations (Mendelian violations) and, if so, what -mvq cut-off do they use? My data is exome sequencing with a large range of read depths - from mean target coverage of 14X to >50X.

Thanks,

Kath

Tagged:

Hi Kath,

Just to be clear about terminology, SelectVariants doesn't "call" anything, that's what UnifiedGenotyper and HaplotypeCaller do. SelectVariants allows you to select a subset of previously called variants that match certain criteria.

We don't currently have any specific recommendations on parameters for selecting de novo mutations. My personal approach would be to use a rather low mvq value, then apply VariantFiltration to discriminate between artifacts and real mutations of interest.

• Member

Thanks for your reply. I don't have much of a feel for what parameters people typically use with VariantFiltration for narrowing down to real variants. In the example you have AB<0.2 and MQ0>50 - is this typical criteria? I am using a multi-sample vcf. If a variant exceeds the thresholds in sample A but not sample B, will the likely genotype in sample B still be presented in the output vcf?

Kath