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Add new flag for variants with discrepant frequencies

Open ch-kr opened this issue 11 months ago • 1 comments

Julia has been hard at work generating combined frequencies across the exomes and genomes/running statistical tests on these freqs. We would like to add a flag to variants with very discrepant frequencies between the two data types (as flagged by the Cochran–Mantel–Haenszel test) as part of the v4.1 release. The flag likely should have a hover-over that includes the actual statistic and p-value.

Tagging @jkgoodrich in case I've mixed up the messaging and/or to provide more details

ch-kr avatar Mar 13 '24 20:03 ch-kr

Table for demo: gs://gnomad-tmp/release/4.1/ht/joint/gnomad.joint.v4.1.faf.filtered.ht; also see thread.

Could you flag variants with values less than 10e-4 in this field: freq_comparison_stats.cochran_mantel_haenszel_test.p_value?

Also, in the flag hover-over text, could you include the actual value of this field (p-value) and the odds ratio (freq_comparison_stats.cochran_mantel_haenszel_test.odds_ratio)? Mark requested displaying the actual values, and I'd like to get feedback from him/others as to whether they find this information helpful to include

ch-kr avatar Mar 15 '24 14:03 ch-kr