Converting from 23andMe to VCF
The raw 23andMe results can be downloaded as a tab-delimited file with four columns, the marker ID, chromosome name, position and the genotype:
rs6139074 20 63244 AA rs1418258 20 63799 CC rs6086616 20 68749 TT rs6039403 20 69094 AG
The dot “.” can be used for a marker ID in case it is not known. The conversion command is then:
bcftools convert --tsv2vcf input.tab.gz -f ref.fa -s SampleName -Ob -o sample.bcf
It is important to check the output printed on the screen, which may look for example like this:
Rows total: 612647 Rows skipped: 4751 Missing GTs: 20525 Hom RR: 318339 Het RA: 165598 Hom AA: 103420 Het AA: 14
Here the program converted more than 95% of the rows, in the example 20525 genotypes are missing (“--”) and 4751 sites were skipped because the tool only considers SNPs and ignores deletions and insertions.
One should also check the number of non-reference heterozygous genotypes, which
was 14 in this example. It should be small like this, because large number of
heterozygous alts (
Het AA) indicates that the input alleles are not on the
forward strand. We can check this explicitly using the fixref plugin.
Merging into multi-sample VCFs
Single-sample VCFs created in the previous step can be merged into one multi-sample VCF using the following commands. The input files must be indexed, then can be merged:
bcftools index sampleA.bcf bcftools index sampleB.bcf bcftools merge -Ob -o output.bcf sampleA.bcf sampleB.bcf
We welcome your feedback, please help us improve this page by either opening an issue on github or editing it directly and sending a pull request.