d10f51c182d74b4984da9b1eb5914d11872454d9 max Wed Jun 22 04:49:06 2022 -0700 Adding Ana's suggested improvements for HMC docs page, refs #29153 diff --git src/hg/makeDb/trackDb/human/constraintSuper.html src/hg/makeDb/trackDb/human/constraintSuper.html index 6bcc1d3..016b9cf 100644 --- src/hg/makeDb/trackDb/human/constraintSuper.html +++ src/hg/makeDb/trackDb/human/constraintSuper.html @@ -75,35 +75,36 @@ <tr align=left> <td>99th</td><td>0.9998</td></tr> <tr align=left> <td>95th</td><td>0.9826</td></tr> <tr align=left> <td>90th</td><td>0.7338</td></tr> </table> </p> <h3>HMC</h3> <p> HMC scores are displayed as a signal ("wiggle") track, with one score per genome position. Mousing over the bars displays the exact values. The highly-constrained cutoff of 0.8 is indicated with a line.</p> <p> -The HMC scores were downloaded and converted to .bedGraph files with a -custom Python script. The bedGraph files were then converted to bigWig files, -as documented in our <a -href="https://github.com/ucscGenomeBrowser/kent/blob/master/src/hg/makeDb/doc/hg19.txt" -target=_blank>makeDoc</a> hg19 build log.</p> +<b>Interpretation:</b> +A protein residue with HMC score <1 indicates that missense variants affecting +the homologous residues are significantly under negative selection (P-value < +0.05) and likely to be deleterious. A more stringent score threshold of HMC<0.8 +is recommended to prioritize predicted disease-associated variants. +</p> <h3>MTR</h3> <p> MTR data can be found on two tracks, <b>MTR All data</b> and <b>MTR Scores</b>. In the <b>MTR Scores</b> track the data has been converted into 4 separate signal tracks representing each base pair mutation, with the lowest possible score shown when multiple transcripts overlap at a position. Overlaps can happen since this score is derived from transcripts and multiple transcripts can overlap. A horizontal line is drawn on the 0.8 score line to roughly represent the 25th percentile, meaning the items below may be of particular interest. It is recommended that the data be explored using this version of the track, as it condenses the information substantially while retaining the magnitude of the data.</p> <p>Any specific point mutations of interest can then be researched in the <b>