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auryjm avatar auryjm commented on June 25, 2024

Hello and thank you for feedback on Hapo-G.

The second ratio is the proportion of reads in the pile (reads are added sequentially with a maximum coverage of 50) that have the given difference. And the first ratio involved only reads that were selected to be from the same haplotype. For example, for a heterozygous variation in a perfect world, one can expect to have ratio1=1 and ratio2=0.5.

In the Figure 2 of the Hapo-G publication, the second ratio does not take into account the two red-striped reads which come from a different haplotype (https://academic.oup.com/view-large/figure/246277757/lqab034fig2.jpg)

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cistarsa avatar cistarsa commented on June 25, 2024

Thank you for the quick feedback and useful figure! So in these examples will they retain the ref=A or add the ataA, atta..etc from the reads? It looks like the read ratio is higher for reference?

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auryjm avatar auryjm commented on June 25, 2024

Yes, in this case it will change the reference sequence and use the read content (ataA, atttG, ...). The ratio in this case is lower, but perhaps the choice between the two haplotypes was made previously at another heterozygous site.

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cistarsa avatar cistarsa commented on June 25, 2024

Gotcha, OK great thank you!

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