1259dcfba3a263d92d2602665fd866dc44b47996 lrnassar Sun Jun 21 11:17:10 2026 -0700 Clarify varFreqs description page wording per code review feedback. refs #37733 Reword the default_an sentence in the Pooled allele frequency sections of varFreqsAffected.html and varFreqsBackground.html to explain that cohorts publishing only AF are pooled via an assigned default_an, with per-arm AC derived as round(AF * default_an). Change "tokens" to "terms" in the Consequence filter section of varFreqs.html. diff --git src/hg/makeDb/trackDb/human/varFreqsBackground.html src/hg/makeDb/trackDb/human/varFreqsBackground.html index 2b7d13f8ecb..5d2f82eb6ef 100644 --- src/hg/makeDb/trackDb/human/varFreqsBackground.html +++ src/hg/makeDb/trackDb/human/varFreqsBackground.html @@ -36,32 +36,34 @@ <td>synonymous, stop_retained</td></tr> <tr><th style="background-color:#808080;width:2em"> </th> <td>Non-coding / intergenic</td> <td>intron, non_coding, intergenic, UTR</td></tr> </table> <p> The score (used for shading) is the pooled background allele frequency times 1000. </p> <h3>Pooled allele frequency</h3> <p> <b>Background AF</b> is the pooled rate across contributing population cohorts and unaffected/control arms: <code>backgroundAF = sum(AC) / sum(AN)</code>, where <b>backgroundAC</b> sums the allele counts and <b>backgroundAN</b> sums the allele numbers across each cohort/arm that provides both AC and AF (the per-arm AN is derived as -<code>round(AC / AF)</code>). Two cohorts that publish only AF (ABraOM, ALFA) contribute -via a configured <code>default_an</code> in the build configuration. Cohorts that publish +<code>round(AC / AF)</code>). Two cohorts that publish only AF (ABraOM, ALFA) are still +pooled by assigning them an assumed allele number, set as a <code>default_an</code> in the +build configuration; their per-arm AC is then derived as <code>round(AF × default_an)</code>. +Cohorts that publish only AC with no <code>default_an</code> set (currently MGRB and the GREGoR unaffected and unknown arms), and cohorts that contribute only through per-population AC/AF (currently AllOfUs), are listed in <b>backgroundSources</b> but do not contribute to the pool numerator or denominator; their data remain visible in the per-database and per-population AC/AF columns. The pooled rate is preferred over a max-across-cohorts statistic so a small cohort with a high local AF (for example AllOfUs Oceanian) cannot dominate the displayed frequency. </p> <h2>Filters</h2> <ul> <li><b>Variant Type</b> and <b>Consequence</b>: restrict to SNV/insertion/deletion/MNV and to predicted consequence classes (the Consequence filter uses OR logic over the comma-separated tokens on each variant).</li> <li><b>Background AF</b>, <b>AC</b>, <b>AN</b>: the pooled allele frequency