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QC for GorGor #1701
QC for GorGor #1701
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Also for recombination rates, I see that chromosome X was given the genome average rate (which we agree on) but no data in the citation was given about X-linked recombination rates. In my QC PR I've set it to zero, so this will fail tests. I'm not sure as to the best way to proceed here. Perhaps @petrelharp has an opinion of what to do in this case? |
Lacking other information, we set the rate on the X to the autosomal rate, I'd say - pretty sure this is what we do elsewhere, and this will be closer to correct than 0. |
I know what it is! Those two reported mutation rates are for particular gorillas with particular parental ages; they've then used assumptions about how the mutation rate varies with age to extrapolate to an average mutation rate across time. They report 0.65e-9 mutations/year and a generation time of 19 years (as in the catalog); and 1.235e-8 = 0.65e-9 * 19. This seems pretty reasonable to me, FWIW. (Clearly, though, the calculation should be documented.) |
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LGTM except for issues discussed
Nice! So I'll make these changes on the QC and we should be good to go here |
Codecov ReportAll modified and coverable lines are covered by tests ✅
Additional details and impacted files@@ Coverage Diff @@
## main #1701 +/- ##
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Coverage 99.85% 99.85%
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Files 139 139
Lines 4851 4851
Branches 470 470
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Hits 4844 4844
Misses 3 3
Partials 4 4 ☔ View full report in Codecov by Sentry. |
QCing the species addition for GorGor #1517
this pertains to issue #1659 as well
I've gone through and everything looks good except for the mutation rates initially drafted by @ChristianHuber
The mutation rate estimate in the catalog currently is 1.235e-08. Looking at the citation I see that they sequenced two gorilla trios, one of which had a rate of 1.03e-08 and the other which was at 1.22e-08. Averaging these I came up with a rate of 1.125e-08.
@ChristianHuber -- do you see different numbers reported?