somAgg code book general information¶
FILTER, INFO, and FORMAT fields in somAgg¶
A substantial amount of queries to somAgg can be made using the FILTER, INFO, and FORMAT tags within the VCFs.
- The FILTER field has been forced to ".".
- The INFO filed shows the per variant list of key-value pairs describing the variation (such as variant filter (flags, such as CommonGermlineVariant, or fraction of panel containing non-reference noise at the site(PNOISE)).
- The FORMAT field shows and extensible list of fields for describing the samples per variant (such as number of reads supporting each allele (AU:CU:GU:TU) or sample depth).
You can extract all tags per field using the code below which uses bcftools to view the header of a single chunk then extracts the specific field:
Identifying which chunk to use¶
somAgg is split into 1,371 chunks across the genome. This is true for both the genotype VCFs and the functional annotation VCFs; where the chromosome, start, and stop chunk names are identical across data types.
It is often necessary to know which chunk(s) your gene(s), variant(s), region(s) of interest are located in. The script below helps you to this.
Chunks are named in the following format:
_- for example - _
List of chunk names and somAgg VCF files¶
The list of chunk names and full file paths to both the genotype and functional annotation VCFs can be found here.
Each of the 1,371 chunks is on a separate line and each line contains 7 fields:
|4||Chromosome, start, stop (format 1)||chr1_1_506426|
|5||Chromosome, start, stop (format 2)||chr1:1-506426|
|6||Full path to genotype annotation VCF||
Create your own regions file¶
You firstly must create a regions file of your gene(s), variant(s), region(s) of interest. This must be a three or column tab-delimited file of chromosome, start, and stop (with an option fourth column of an identifier - i.e. a gene name). The file should have the .bed extension. There is no limit to how many lines you can have in this file.
Please pre-sort your data by chromosome and then by start position (
sort -k1,1 -k2,2n in.bed > in.sorted.bed)
Intersect the two files¶
Now you can intersect the bed file of chunk names with your regions file using bedtools as shown below:
This will print out a six column tab-delimited file with the number of lines equalling the number of inputs in the regions file. It will have the following format:
|5||Full path to genotype annotation VCF||
The full array of columns can also be printed by omitting the cut command.