1
$\begingroup$

everyone!

I'm working with haplotype inference algorithms in pedigree genotype data, and I would like to know if there is a tool or script to calculate switch errors on phased pedigree data (Plink formatted)?

I already know that VCFtools and other scripts do exist, but they only work with VCF format.

Note: I tried to convert my phased pedigree data to VCF but I lost phase, so, this approach does not seem to be helpful, that's why I'm looking for a specific tool to detect switches on phased pedigree data.

A switch errors ocurr when heterozygous positions are misassigned relative to the previous heterozygous position.

See visual example (block 2), True haplotypes up, inferred haplotypes bottom: https://www.researchgate.net/publication/310766263/figure/fig13/AS:431688409980932@1479933945501/Illustration-of-switch-errors-and-block-breakpoints-In-haplotype-block-2-there-are-two.png

In my case, I got the phased pedigree plink file as follows:

Infered Haplotype, individual 1: 1|2 2|1 1|2 1|2 1|2

Real Haplotype, individual 1: 1|2 1|2 2|1 1|2 1|2

We can see 2 switches, between position 1-2 and 3-4.

Thank you very much in advance! Regards!

$\endgroup$
2
  • $\begingroup$ Can you explain what switch errors are? $\endgroup$
    – Dan Bolser
    Mar 7, 2022 at 14:43
  • $\begingroup$ A switch errors occur when heterozygous positions are misassigned relative to the previous heterozygous position. See visual example (block 2), True haplotypes up, inferred haplotypes bottom: researchgate.net/publication/310766263/figure/fig13/… I got the phased pedigree plink file as follows: Inferred Haplotype, individual 1: 1 1|2 2|1 1|2 1|2 1|2 Real Haplotype, individual 1: 1 1|2 1|2 2|1 1|2 1|2 See 2 switches, between pos. 1-2 and 3-4. $\endgroup$
    – Roa.tar
    Mar 8, 2022 at 18:13

0

Your Answer

By clicking “Post Your Answer”, you agree to our terms of service and acknowledge that you have read and understand our privacy policy and code of conduct.

Browse other questions tagged or ask your own question.