IBS/IBD, --rel-cutoff and LD pruning -- order of operations

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Maíra R. Rodrigues

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Nov 25, 2019, 2:06:38 PM11/25/19
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Hi all, 

I'm wondering why the IBS/IBD calculations are recommended to come after LD pruning (https://www.cog-genomics.org/plink/1.9/ibd), while the --rel-cutoff for relationship-based pruning comes before LD pruning in the Order of Operations? (https://www.cog-genomics.org/plink/1.9/order)
Isn't the relationship matrix used in --rel-cutoff based on IBS/IBD calculations? 

Thank you in advance!
Maira 


Christopher Chang

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Nov 25, 2019, 2:19:06 PM11/25/19
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1. For historical reasons, LD pruning does not modify the *current* active variant set; it only writes lists of variant IDs to .prune.in and .prune.out files, which must be provided as input to --extract/--exclude later.  So its position in the order of operations, relative to --rel-cutoff and similar operations, is irrelevant.
2. The relationship matrix calculation is entirely separate from the IBS matrix calculation, since it requires variance-standardization that cannot just be applied after the fact on the IBS matrix.
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